{"id":7462,"date":"2026-01-02T11:27:53","date_gmt":"2026-01-02T11:27:53","guid":{"rendered":"https:\/\/cureclcn4.org\/genetica\/"},"modified":"2026-01-02T11:27:55","modified_gmt":"2026-01-02T11:27:55","slug":"genetica","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/pt-br\/genetica\/","title":{"rendered":"Gen\u00e9tica"},"content":{"rendered":"

[et_pb_section fb_built=”1″ admin_label=”Header” _builder_version=”3.22″ background_color=”#f7f9f9″ parallax=”on” collapsed=”off”][et_pb_row column_structure=”1_2,1_2″ _builder_version=”3.25″ custom_padding=”0px|||||”][et_pb_column type=”1_2″ _builder_version=”3.25″ custom_padding=”80px||40px|” custom_padding_tablet=”0px||” custom_padding_phone=”” custom_padding_last_edited=”on|tablet” padding_tablet=”0px||” padding_last_edited=”on|tablet” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.5.8″ text_font=”||||||||” text_line_height=”2em” header_font=”Faustina|600|||||||” header_text_color=”#0e7162″ header_font_size=”60px” header_line_height=”1.3em” custom_margin=”-19px|||||” header_font_size_tablet=”50px” header_font_size_phone=”40px” header_font_size_last_edited=”on|phone”]<\/p>\n

Gen\u00e9tica do CLCN4 <\/h1>\n

[\/et_pb_text][et_pb_text _builder_version=”4.5.8″ text_font=”||||||||” text_font_size=”18px” text_line_height=”2em” header_font=”Faustina||||||||” header_text_color=”#0e7162″ header_font_size=”60px” header_line_height=”1.3em” custom_margin=”||17px|||”]<\/p>\n

A gen\u00e9tica do CLCN4, ou seja, como a doen\u00e7a \u00e9 causada e como ela pode ser transmitida nas fam\u00edlias, \u00e9 complicada.<\/p>\n

[\/et_pb_text][et_pb_text _builder_version=”4.5.8″ text_font=”||||||||” text_line_height=”2em” header_font=”Faustina||||||||” header_text_color=”#0e7162″ header_font_size=”60px” header_line_height=”1.3em” custom_margin=”||17px|||”]<\/p>\n

Recomendamos que todas as fam\u00edlias busquem orienta\u00e7\u00e3o de um profissional de gen\u00e9tica cl\u00ednica, pedindo ao m\u00e9dico de fam\u00edlia ou pediatra que as encaminhe a um servi\u00e7o de gen\u00e9tica.<\/p>\n

Para obter mais informa\u00e7\u00f5es sobre como acessar os servi\u00e7os de gen\u00e9tica, consulte aqui <\/a> (Reino Unido), aqui<\/a> (Austr\u00e1lia\/Nova Zel\u00e2ndia) ou aqui (EUA).<\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-19.png” alt=”Gen\u00e9tica do CLCN4″ title_text=”caridade-19″ show_bottom_space=”off” align_tablet=”center” align_phone=”” align_last_edited=”on|desktop” _builder_version=”4.5.8″ custom_margin=”-47px|||||” animation_style=”slide” animation_direction=”right” animation_intensity_slide=”2%”][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Get Involved” _builder_version=”3.22″ background_color=”#f7f9f9″ background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png” parallax=”on” custom_padding=”0|1px|102px|0px|false|false” use_custom_width=”on” custom_width_px=”1200px” custom_width_px__hover=”1080px” custom_width_px__hover_enabled=”1080px” custom_width_percent__hover=”80%” custom_width_percent__hover_enabled=”80%” collapsed=”off” gutter_width__hover=”3″ gutter_width__hover_enabled=”3″ parallax_1__hover=”off” parallax_1__hover_enabled=”off” parallax_2__hover=”off” parallax_2__hover_enabled=”off” parallax_3__hover=”off” parallax_3__hover_enabled=”off” parallax_method_1__hover=”on” parallax_method_1__hover_enabled=”on” parallax_method_2__hover=”on” parallax_method_2__hover_enabled=”on” parallax_method_3__hover=”on” parallax_method_3__hover_enabled=”on” use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” background_color_gradient_type__hover_enabled=”linear” background_color_gradient_direction__hover=”180deg” background_color_gradient_direction__hover_enabled=”180deg” background_color_gradient_direction_radial__hover=”center” background_color_gradient_direction_radial__hover_enabled=”center” background_color_gradient_start_position__hover=”0%” background_color_gradient_start_position__hover_enabled=”0%” background_color_gradient_end_position__hover=”100%” background_color_gradient_end_position__hover_enabled=”100%” background_color_gradient_overlays_image__hover=”off” background_color_gradient_overlays_image__hover_enabled=”off” parallax__hover=”off” parallax__hover_enabled=”off” parallax_method__hover=”on” parallax_method__hover_enabled=”on” background_size__hover=”cover” background_size__hover_enabled=”cover” background_position__hover=”center” background_position__hover_enabled=”center” background_repeat__hover=”no-repeat” background_repeat__hover_enabled=”no-repeat” background_blend__hover=”normal” background_blend__hover_enabled=”normal” allow_player_pause__hover=”off” allow_player_pause__hover_enabled=”off” background_video_pause_outside_viewport__hover=”on” background_video_pause_outside_viewport__hover_enabled=”on” inner_shadow__hover=”off” inner_shadow__hover_enabled=”off” make_fullwidth__hover=”off” make_fullwidth__hover_enabled=”off” use_custom_width__hover=”off” use_custom_width__hover_enabled=”off” width_unit__hover=”on” width_unit__hover_enabled=”on” make_equal__hover=”off” make_equal__hover_enabled=”off” use_custom_gutter__hover=”off” use_custom_gutter__hover_enabled=”off” border_radii__hover=”on||||” border_radii__hover_enabled=”on||||” box_shadow_style__hover=”none” box_shadow_style__hover_enabled=”none” box_shadow_color__hover=”rgba(0,0,0,0.3)” box_shadow_color__hover_enabled=”rgba(0,0,0,0.3)” max_width__hover=”100%” max_width__hover_enabled=”100%” filter_hue_rotate__hover=”0deg” filter_hue_rotate__hover_enabled=”0deg” filter_saturate__hover=”100%” filter_saturate__hover_enabled=”100%” filter_brightness__hover=”100%” filter_brightness__hover_enabled=”100%” filter_contrast__hover=”100%” filter_contrast__hover_enabled=”100%” filter_invert__hover=”0%” filter_invert__hover_enabled=”0%” filter_sepia__hover=”0%” filter_sepia__hover_enabled=”0%” filter_opacity__hover=”100%” filter_opacity__hover_enabled=”100%” filter_blur__hover=”0px” filter_blur__hover_enabled=”0px” mix_blend_mode__hover=”normal” mix_blend_mode__hover_enabled=”normal” animation_style__hover=”none” animation_style__hover_enabled=”none” animation_repeat__hover=”once” animation_repeat__hover_enabled=”once” animation_direction__hover=”center” animation_direction__hover_enabled=”center” animation_duration__hover=”1000ms” animation_duration__hover_enabled=”1000ms” animation_delay__hover=”0ms” animation_delay__hover_enabled=”0ms” animation_intensity_slide__hover=”50%” animation_intensity_slide__hover_enabled=”50%” animation_intensity_zoom__hover=”50%” animation_intensity_zoom__hover_enabled=”50%” animation_intensity_flip__hover=”50%” animation_intensity_flip__hover_enabled=”50%” animation_intensity_fold__hover=”50%” animation_intensity_fold__hover_enabled=”50%” animation_intensity_roll__hover=”50%” animation_intensity_roll__hover_enabled=”50%” animation_starting_opacity__hover=”0%” animation_starting_opacity__hover_enabled=”0%” animation_speed_curve__hover=”ease-in-out” animation_speed_curve__hover_enabled=”ease-in-out” hover_transition_duration__hover=”300ms” hover_transition_duration__hover_enabled=”300ms” hover_transition_delay__hover=”0ms” hover_transition_delay__hover_enabled=”0ms” hover_transition_speed_curve__hover=”ease” hover_transition_speed_curve__hover_enabled=”ease” inner_max_width__hover=”1080px” inner_max_width__hover_enabled=”1080px”][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”3.25″ background_color=”#ffffff” max_width=”1200px” custom_padding=”40px|80px|27px|80px|false|true” custom_padding_tablet=”” custom_padding_phone=”|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.5.8″ text_font=”Faustina||||||||” text_font_size=”24px” text_line_height=”2em” link_font=”|700|||||||” link_text_color=”#26c699″ header_font=”||||||||” header_2_font=”Faustina|600|||||||” header_2_text_color=”#0e7162″ header_2_font_size=”42px” header_2_line_height=”1.4em” text_orientation=”center” max_width=”850px” module_alignment=”center” text_font_size_tablet=”” text_font_size_phone=”17px” text_font_size_last_edited=”on|phone” header_2_font_size_tablet=”32px” header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off”]<\/p>\n

Os homens e as mulheres s\u00e3o afetados de forma diferente?<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.5.8″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_blurb title=”Homens” content_max_width=”800px” _builder_version=”4.5.8″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em”]<\/p>\n

Os homens t\u00eam apenas um cromossomo X: eles herdam um cromossomo X da m\u00e3e e um cromossomo Y do pai. Isso significa que os homens t\u00eam apenas uma c\u00f3pia do gene CLCN4<\/strong> – eles n\u00e3o t\u00eam uma c\u00f3pia “reserva” se tiverem uma falha no gene CLCN4<\/strong>. <\/p>\n

Os homens com uma altera\u00e7\u00e3o no gene CLCN4<\/strong> (herdada da m\u00e3e ou devido a uma altera\u00e7\u00e3o de novo) ter\u00e3o sintomas de CLCN4<\/strong>, mas esses sintomas podem variar amplamente em termos de gravidade e frequ\u00eancia.<\/p>\n

[\/et_pb_blurb][et_pb_blurb title=”Para as mulheres, \u00e9 mais complicado!” content_max_width=”800px” _builder_version=”4.5.8″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em”]<\/p>\n

As mulheres t\u00eam dois cromossomos X: elas herdam um cromossomo X da m\u00e3e e outro cromossomo X do pai. Isso significa que, potencialmente, elas t\u00eam uma c\u00f3pia funcional “de reserva” do gene CLCN4. Entretanto, em geral, as mulheres t\u00eam apenas uma c\u00f3pia funcional de um cromossomo X em cada c\u00e9lula devido a um processo chamado “inativa\u00e7\u00e3o do cromossomo X<\/a>“. Nosso entendimento atual \u00e9 que a gravidade com que uma mulher ser\u00e1 afetada pelo CLCN4 depende da propor\u00e7\u00e3o de c\u00e9lulas em seu c\u00e9rebro que inativam a c\u00f3pia do cromossomo X com a falha do CLCN4 e da propor\u00e7\u00e3o de c\u00e9lulas em seu c\u00e9rebro que inativam a c\u00f3pia do cromossomo X com a c\u00f3pia funcional do gene. <\/p>\n

O grau de severidade com que uma mulher ser\u00e1 afetada tamb\u00e9m parece ser influenciado pelo fato de a altera\u00e7\u00e3o gen\u00e9tica ter ocorrido pela primeira vez quando ela foi concebida (uma altera\u00e7\u00e3o de novo: veja abaixo) ou se a altera\u00e7\u00e3o gen\u00e9tica foi herdada.<\/p>\n

As mulheres que herdam um cromossomo X com uma altera\u00e7\u00e3o no gene CLCN4 s\u00e3o geralmente chamadas de “portadoras”. As mulheres portadoras podem n\u00e3o apresentar nenhum sintoma ou podem apresentar alguns sintomas de doen\u00e7as relacionadas ao CLCN4, geralmente (mas nem sempre) na extremidade leve do espectro. Algumas mulheres portadoras podem, por exemplo, ter problemas leves de aprendizagem ou de fala ou uma chance maior de ter problemas de sa\u00fade mental (ansiedade e\/ou depress\u00e3o). <\/p>\n

Por outro lado, as mulheres com uma altera\u00e7\u00e3o de novo no gene CLCN4 geralmente apresentam uma gama de sintomas semelhante \u00e0 dos homens.<\/p>\n

Em resumo:<\/strong>
Os homens com uma falha no CLCN4 sempre apresentam sintomas, enquanto as mulheres com uma falha no CLCN4 podem n\u00e3o ser afetadas, apresentar sintomas leves ou sintomas mais graves. \u00c9 mais prov\u00e1vel que elas sejam afetadas se a altera\u00e7\u00e3o gen\u00e9tica tiver ocorrido de novo (quando foram concebidas) em vez de ser herdada de um dos pais. Ainda temos muito a aprender para entender melhor essa complexidade. <\/p>\n

[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”3.22″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off”][et_pb_row _builder_version=”4.5.8″ _module_preset=”default”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ _module_preset=”default”][et_pb_divider show_divider=”off” _builder_version=”4.5.8″ _module_preset=”default”][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Get Involved” _builder_version=”3.22″ background_color=”#f7f9f9″ background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png” parallax=”on” custom_padding=”0|1px|102px|0px|false|false” use_custom_width=”on” custom_width_px=”1200px” custom_width_px__hover=”1080px” custom_width_px__hover_enabled=”1080px” custom_width_percent__hover=”80%” custom_width_percent__hover_enabled=”80%” collapsed=”off” gutter_width__hover=”3″ gutter_width__hover_enabled=”3″ parallax_1__hover=”off” parallax_1__hover_enabled=”off” parallax_2__hover=”off” parallax_2__hover_enabled=”off” parallax_3__hover=”off” parallax_3__hover_enabled=”off” parallax_method_1__hover=”on” parallax_method_1__hover_enabled=”on” parallax_method_2__hover=”on” parallax_method_2__hover_enabled=”on” parallax_method_3__hover=”on” parallax_method_3__hover_enabled=”on” use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” background_color_gradient_type__hover_enabled=”linear” background_color_gradient_direction__hover=”180deg” background_color_gradient_direction__hover_enabled=”180deg” background_color_gradient_direction_radial__hover=”center” background_color_gradient_direction_radial__hover_enabled=”center” background_color_gradient_start_position__hover=”0%” background_color_gradient_start_position__hover_enabled=”0%” background_color_gradient_end_position__hover=”100%” background_color_gradient_end_position__hover_enabled=”100%” background_color_gradient_overlays_image__hover=”off” background_color_gradient_overlays_image__hover_enabled=”off” parallax__hover=”off” parallax__hover_enabled=”off” parallax_method__hover=”on” parallax_method__hover_enabled=”on” background_size__hover=”cover” background_size__hover_enabled=”cover” background_position__hover=”center” background_position__hover_enabled=”center” background_repeat__hover=”no-repeat” background_repeat__hover_enabled=”no-repeat” background_blend__hover=”normal” background_blend__hover_enabled=”normal” allow_player_pause__hover=”off” allow_player_pause__hover_enabled=”off” background_video_pause_outside_viewport__hover=”on” background_video_pause_outside_viewport__hover_enabled=”on” inner_shadow__hover=”off” inner_shadow__hover_enabled=”off” make_fullwidth__hover=”off” make_fullwidth__hover_enabled=”off” use_custom_width__hover=”off” use_custom_width__hover_enabled=”off” width_unit__hover=”on” width_unit__hover_enabled=”on” make_equal__hover=”off” make_equal__hover_enabled=”off” use_custom_gutter__hover=”off” use_custom_gutter__hover_enabled=”off” border_radii__hover=”on||||” border_radii__hover_enabled=”on||||” box_shadow_style__hover=”none” box_shadow_style__hover_enabled=”none” box_shadow_color__hover=”rgba(0,0,0,0.3)” box_shadow_color__hover_enabled=”rgba(0,0,0,0.3)” max_width__hover=”100%” max_width__hover_enabled=”100%” filter_hue_rotate__hover=”0deg” filter_hue_rotate__hover_enabled=”0deg” filter_saturate__hover=”100%” filter_saturate__hover_enabled=”100%” filter_brightness__hover=”100%” filter_brightness__hover_enabled=”100%” filter_contrast__hover=”100%” filter_contrast__hover_enabled=”100%” filter_invert__hover=”0%” filter_invert__hover_enabled=”0%” filter_sepia__hover=”0%” filter_sepia__hover_enabled=”0%” filter_opacity__hover=”100%” filter_opacity__hover_enabled=”100%” filter_blur__hover=”0px” filter_blur__hover_enabled=”0px” mix_blend_mode__hover=”normal” mix_blend_mode__hover_enabled=”normal” animation_style__hover=”none” animation_style__hover_enabled=”none” animation_repeat__hover=”once” animation_repeat__hover_enabled=”once” animation_direction__hover=”center” animation_direction__hover_enabled=”center” animation_duration__hover=”1000ms” animation_duration__hover_enabled=”1000ms” animation_delay__hover=”0ms” animation_delay__hover_enabled=”0ms” animation_intensity_slide__hover=”50%” animation_intensity_slide__hover_enabled=”50%” animation_intensity_zoom__hover=”50%” animation_intensity_zoom__hover_enabled=”50%” animation_intensity_flip__hover=”50%” animation_intensity_flip__hover_enabled=”50%” animation_intensity_fold__hover=”50%” animation_intensity_fold__hover_enabled=”50%” animation_intensity_roll__hover=”50%” animation_intensity_roll__hover_enabled=”50%” animation_starting_opacity__hover=”0%” animation_starting_opacity__hover_enabled=”0%” animation_speed_curve__hover=”ease-in-out” animation_speed_curve__hover_enabled=”ease-in-out” hover_transition_duration__hover=”300ms” hover_transition_duration__hover_enabled=”300ms” hover_transition_delay__hover=”0ms” hover_transition_delay__hover_enabled=”0ms” hover_transition_speed_curve__hover=”ease” hover_transition_speed_curve__hover_enabled=”ease” inner_max_width__hover=”1080px” inner_max_width__hover_enabled=”1080px”][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”3.25″ background_color=”#ffffff” max_width=”1200px” custom_padding=”40px|80px|27px|80px|false|true” custom_padding_tablet=”” custom_padding_phone=”|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.5.8″ text_font=”Faustina||||||||” text_font_size=”24px” text_line_height=”2em” link_font=”|700|||||||” link_text_color=”#26c699″ header_font=”||||||||” header_2_font=”Faustina|600|||||||” header_2_text_color=”#0e7162″ header_2_font_size=”42px” header_2_line_height=”1.4em” text_orientation=”center” max_width=”850px” module_alignment=”center” text_font_size_tablet=”” text_font_size_phone=”17px” text_font_size_last_edited=”on|phone” header_2_font_size_tablet=”32px” header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off”]<\/p>\n

Como as crian\u00e7as podem ter uma doen\u00e7a relacionada ao CLCN4?<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.5.8″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.5.8″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em”]<\/p>\n

As crian\u00e7as podem ter uma condi\u00e7\u00e3o relacionada ao CLCN4 de novo ou herdada. Para saber com certeza qual \u00e9 a situa\u00e7\u00e3o em sua fam\u00edlia, \u00e9 necess\u00e1rio fazer o teste gen\u00e9tico dos pais. Ap\u00f3s o teste dos pais, essa informa\u00e7\u00e3o deve ser inclu\u00edda no relat\u00f3rio do teste gen\u00e9tico de seu filho. <\/p>\n

Altera\u00e7\u00f5es gen\u00e9ticas de CLCN4 de Novo.<\/strong>
Um indiv\u00edduo pode nascer com uma altera\u00e7\u00e3o gen\u00e9tica nova (de novo) no gene CLCN4, que n\u00e3o \u00e9 herdada da m\u00e3e ou do pai. Isso geralmente ocorre porque a falha no CLCN4 aconteceu pela primeira vez quando o beb\u00ea foi concebido (quando o \u00f3vulo e o espermatozoide se juntaram para formar um beb\u00ea). A condi\u00e7\u00e3o relacionada ao CLCN4 n\u00e3o foi causada por nada que um dos pais tenha feito ou deixado de fazer, como tomar determinados medicamentos ou exposi\u00e7\u00f5es ambientais, mas simplesmente aconteceu por acaso. N\u00e3o foi “culpa” de ningu\u00e9m. <\/p>\n

H\u00e1 uma chance muito baixa (estimada em 1 em 100) de que os irm\u00e3os de uma crian\u00e7a com uma falha de novo no CLCN4 tamb\u00e9m sejam afetados pelo CLCN4. Entretanto, a chance n\u00e3o \u00e9 zero, pois, muito ocasionalmente, a falha ocorreu em um fragmento de \u00f3vulos na m\u00e3e ou de esperma no pai(mosaicismo de linha germinativa<\/a>). <\/p>\n

Os homens com uma altera\u00e7\u00e3o gen\u00e9tica do CLCN4 de novo apresentar\u00e3o sintomas da doen\u00e7a relacionada ao CLCN4. As mulheres com uma altera\u00e7\u00e3o gen\u00e9tica de novo do CLCN4 parecem apresentar uma gama de sintomas semelhante \u00e0 dos homens. <\/p>\n

 <\/p>\n

[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”3.22″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off”][et_pb_row _builder_version=”4.5.8″ _module_preset=”default”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ _module_preset=”default”][et_pb_divider show_divider=”off” _builder_version=”4.5.8″ _module_preset=”default”][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Get Involved” _builder_version=”3.22″ background_color=”#f7f9f9″ background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png” parallax=”on” custom_padding=”0|1px|102px|0px|false|false” use_custom_width=”on” custom_width_px=”1200px” custom_width_px__hover=”1080px” custom_width_px__hover_enabled=”1080px” custom_width_percent__hover=”80%” custom_width_percent__hover_enabled=”80%” collapsed=”off” gutter_width__hover=”3″ gutter_width__hover_enabled=”3″ parallax_1__hover=”off” parallax_1__hover_enabled=”off” parallax_2__hover=”off” parallax_2__hover_enabled=”off” parallax_3__hover=”off” parallax_3__hover_enabled=”off” parallax_method_1__hover=”on” parallax_method_1__hover_enabled=”on” parallax_method_2__hover=”on” parallax_method_2__hover_enabled=”on” parallax_method_3__hover=”on” parallax_method_3__hover_enabled=”on” use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” background_color_gradient_type__hover_enabled=”linear” background_color_gradient_direction__hover=”180deg” background_color_gradient_direction__hover_enabled=”180deg” background_color_gradient_direction_radial__hover=”center” background_color_gradient_direction_radial__hover_enabled=”center” background_color_gradient_start_position__hover=”0%” background_color_gradient_start_position__hover_enabled=”0%” background_color_gradient_end_position__hover=”100%” background_color_gradient_end_position__hover_enabled=”100%” background_color_gradient_overlays_image__hover=”off” background_color_gradient_overlays_image__hover_enabled=”off” parallax__hover=”off” parallax__hover_enabled=”off” parallax_method__hover=”on” parallax_method__hover_enabled=”on” background_size__hover=”cover” background_size__hover_enabled=”cover” background_position__hover=”center” background_position__hover_enabled=”center” background_repeat__hover=”no-repeat” background_repeat__hover_enabled=”no-repeat” background_blend__hover=”normal” background_blend__hover_enabled=”normal” allow_player_pause__hover=”off” allow_player_pause__hover_enabled=”off” background_video_pause_outside_viewport__hover=”on” background_video_pause_outside_viewport__hover_enabled=”on” inner_shadow__hover=”off” inner_shadow__hover_enabled=”off” make_fullwidth__hover=”off” make_fullwidth__hover_enabled=”off” use_custom_width__hover=”off” use_custom_width__hover_enabled=”off” width_unit__hover=”on” width_unit__hover_enabled=”on” make_equal__hover=”off” make_equal__hover_enabled=”off” use_custom_gutter__hover=”off” use_custom_gutter__hover_enabled=”off” border_radii__hover=”on||||” border_radii__hover_enabled=”on||||” box_shadow_style__hover=”none” box_shadow_style__hover_enabled=”none” box_shadow_color__hover=”rgba(0,0,0,0.3)” box_shadow_color__hover_enabled=”rgba(0,0,0,0.3)” max_width__hover=”100%” max_width__hover_enabled=”100%” filter_hue_rotate__hover=”0deg” filter_hue_rotate__hover_enabled=”0deg” filter_saturate__hover=”100%” filter_saturate__hover_enabled=”100%” filter_brightness__hover=”100%” filter_brightness__hover_enabled=”100%” filter_contrast__hover=”100%” filter_contrast__hover_enabled=”100%” filter_invert__hover=”0%” filter_invert__hover_enabled=”0%” filter_sepia__hover=”0%” filter_sepia__hover_enabled=”0%” filter_opacity__hover=”100%” filter_opacity__hover_enabled=”100%” filter_blur__hover=”0px” filter_blur__hover_enabled=”0px” mix_blend_mode__hover=”normal” mix_blend_mode__hover_enabled=”normal” animation_style__hover=”none” animation_style__hover_enabled=”none” animation_repeat__hover=”once” animation_repeat__hover_enabled=”once” animation_direction__hover=”center” animation_direction__hover_enabled=”center” animation_duration__hover=”1000ms” animation_duration__hover_enabled=”1000ms” animation_delay__hover=”0ms” animation_delay__hover_enabled=”0ms” animation_intensity_slide__hover=”50%” animation_intensity_slide__hover_enabled=”50%” animation_intensity_zoom__hover=”50%” animation_intensity_zoom__hover_enabled=”50%” animation_intensity_flip__hover=”50%” animation_intensity_flip__hover_enabled=”50%” animation_intensity_fold__hover=”50%” animation_intensity_fold__hover_enabled=”50%” animation_intensity_roll__hover=”50%” animation_intensity_roll__hover_enabled=”50%” animation_starting_opacity__hover=”0%” animation_starting_opacity__hover_enabled=”0%” animation_speed_curve__hover=”ease-in-out” animation_speed_curve__hover_enabled=”ease-in-out” hover_transition_duration__hover=”300ms” hover_transition_duration__hover_enabled=”300ms” hover_transition_delay__hover=”0ms” hover_transition_delay__hover_enabled=”0ms” hover_transition_speed_curve__hover=”ease” hover_transition_speed_curve__hover_enabled=”ease” inner_max_width__hover=”1080px” inner_max_width__hover_enabled=”1080px”][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”3.25″ background_color=”#ffffff” max_width=”1200px” custom_padding=”40px|80px|27px|80px|false|true” custom_padding_tablet=”” custom_padding_phone=”|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.5.8″ text_font=”Faustina||||||||” text_font_size=”24px” text_line_height=”2em” link_font=”|700|||||||” link_text_color=”#26c699″ header_font=”||||||||” header_2_font=”Faustina|600|||||||” header_2_text_color=”#0e7162″ header_2_font_size=”42px” header_2_line_height=”1.4em” text_orientation=”center” max_width=”850px” module_alignment=”center” text_font_size_tablet=”” text_font_size_phone=”17px” text_font_size_last_edited=”on|phone” header_2_font_size_tablet=”32px” header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off”]<\/p>\n

Altera\u00e7\u00f5es gen\u00e9ticas herdadas do CLCN4<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.5.8″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.5.8″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em”]<\/p>\n

Como alternativa, um indiv\u00edduo pode herdar uma altera\u00e7\u00e3o gen\u00e9tica do CLCN4 em um cromossomo X de um dos pais. Isso significa que um dos pais \u00e9 afetado ou portador do CLCN4. Em cerca de \u00be das vezes, os homens herdam a altera\u00e7\u00e3o do gene CLCN4 da m\u00e3e. <\/p>\n

[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”3.22″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off”][et_pb_row _builder_version=”4.5.8″ _module_preset=”default”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ _module_preset=”default”][et_pb_divider show_divider=”off” _builder_version=”4.5.8″ _module_preset=”default”][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Get Involved” _builder_version=”3.22″ background_color=”#f7f9f9″ background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png” parallax=”on” custom_padding=”0|1px|102px|0px|false|false” use_custom_width=”on” custom_width_px=”1200px” custom_width_px__hover=”1080px” custom_width_px__hover_enabled=”1080px” custom_width_percent__hover=”80%” custom_width_percent__hover_enabled=”80%” collapsed=”off” gutter_width__hover=”3″ gutter_width__hover_enabled=”3″ parallax_1__hover=”off” parallax_1__hover_enabled=”off” parallax_2__hover=”off” parallax_2__hover_enabled=”off” parallax_3__hover=”off” parallax_3__hover_enabled=”off” parallax_method_1__hover=”on” parallax_method_1__hover_enabled=”on” parallax_method_2__hover=”on” parallax_method_2__hover_enabled=”on” parallax_method_3__hover=”on” parallax_method_3__hover_enabled=”on” use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” background_color_gradient_type__hover_enabled=”linear” background_color_gradient_direction__hover=”180deg” background_color_gradient_direction__hover_enabled=”180deg” background_color_gradient_direction_radial__hover=”center” background_color_gradient_direction_radial__hover_enabled=”center” background_color_gradient_start_position__hover=”0%” background_color_gradient_start_position__hover_enabled=”0%” background_color_gradient_end_position__hover=”100%” background_color_gradient_end_position__hover_enabled=”100%” background_color_gradient_overlays_image__hover=”off” background_color_gradient_overlays_image__hover_enabled=”off” parallax__hover=”off” parallax__hover_enabled=”off” parallax_method__hover=”on” parallax_method__hover_enabled=”on” background_size__hover=”cover” background_size__hover_enabled=”cover” background_position__hover=”center” background_position__hover_enabled=”center” background_repeat__hover=”no-repeat” background_repeat__hover_enabled=”no-repeat” background_blend__hover=”normal” background_blend__hover_enabled=”normal” allow_player_pause__hover=”off” allow_player_pause__hover_enabled=”off” background_video_pause_outside_viewport__hover=”on” background_video_pause_outside_viewport__hover_enabled=”on” inner_shadow__hover=”off” inner_shadow__hover_enabled=”off” make_fullwidth__hover=”off” make_fullwidth__hover_enabled=”off” use_custom_width__hover=”off” use_custom_width__hover_enabled=”off” width_unit__hover=”on” width_unit__hover_enabled=”on” make_equal__hover=”off” make_equal__hover_enabled=”off” use_custom_gutter__hover=”off” use_custom_gutter__hover_enabled=”off” border_radii__hover=”on||||” border_radii__hover_enabled=”on||||” box_shadow_style__hover=”none” box_shadow_style__hover_enabled=”none” box_shadow_color__hover=”rgba(0,0,0,0.3)” box_shadow_color__hover_enabled=”rgba(0,0,0,0.3)” max_width__hover=”100%” max_width__hover_enabled=”100%” filter_hue_rotate__hover=”0deg” filter_hue_rotate__hover_enabled=”0deg” filter_saturate__hover=”100%” filter_saturate__hover_enabled=”100%” filter_brightness__hover=”100%” filter_brightness__hover_enabled=”100%” filter_contrast__hover=”100%” filter_contrast__hover_enabled=”100%” filter_invert__hover=”0%” filter_invert__hover_enabled=”0%” filter_sepia__hover=”0%” filter_sepia__hover_enabled=”0%” filter_opacity__hover=”100%” filter_opacity__hover_enabled=”100%” filter_blur__hover=”0px” filter_blur__hover_enabled=”0px” mix_blend_mode__hover=”normal” mix_blend_mode__hover_enabled=”normal” animation_style__hover=”none” animation_style__hover_enabled=”none” animation_repeat__hover=”once” animation_repeat__hover_enabled=”once” animation_direction__hover=”center” animation_direction__hover_enabled=”center” animation_duration__hover=”1000ms” animation_duration__hover_enabled=”1000ms” animation_delay__hover=”0ms” animation_delay__hover_enabled=”0ms” animation_intensity_slide__hover=”50%” animation_intensity_slide__hover_enabled=”50%” animation_intensity_zoom__hover=”50%” animation_intensity_zoom__hover_enabled=”50%” animation_intensity_flip__hover=”50%” animation_intensity_flip__hover_enabled=”50%” animation_intensity_fold__hover=”50%” animation_intensity_fold__hover_enabled=”50%” animation_intensity_roll__hover=”50%” animation_intensity_roll__hover_enabled=”50%” animation_starting_opacity__hover=”0%” animation_starting_opacity__hover_enabled=”0%” animation_speed_curve__hover=”ease-in-out” animation_speed_curve__hover_enabled=”ease-in-out” hover_transition_duration__hover=”300ms” hover_transition_duration__hover_enabled=”300ms” hover_transition_delay__hover=”0ms” hover_transition_delay__hover_enabled=”0ms” hover_transition_speed_curve__hover=”ease” hover_transition_speed_curve__hover_enabled=”ease” inner_max_width__hover=”1080px” inner_max_width__hover_enabled=”1080px”][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”3.25″ background_color=”#ffffff” max_width=”1200px” custom_padding=”40px|80px|27px|80px|false|true” custom_padding_tablet=”” custom_padding_phone=”|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.5.8″ text_font=”Faustina||||||||” text_font_size=”24px” text_line_height=”2em” link_font=”|700|||||||” link_text_color=”#26c699″ header_font=”||||||||” header_2_font=”Faustina|600|||||||” header_2_text_color=”#0e7162″ header_2_font_size=”42px” header_2_line_height=”1.4em” text_orientation=”center” max_width=”850px” module_alignment=”center” text_font_size_tablet=”” text_font_size_phone=”17px” text_font_size_last_edited=”on|phone” header_2_font_size_tablet=”32px” header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off”]<\/p>\n

Quais s\u00e3o as chances de uma mulher portadora ter um filho com uma doen\u00e7a relacionada ao CLCN4?<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.5.8″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”4_4″ _builder_version=”4.5.8″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.5.8″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em”]<\/p>\n

As pessoas com CLCN4 ou que s\u00e3o portadoras de CLCN4 t\u00eam op\u00e7\u00f5es ao planejar filhos e essas op\u00e7\u00f5es podem ser discutidas mais detalhadamente com um geneticista cl\u00ednico.<\/p>\n

Quando uma mulher portadora tem filhos, para cada gravidez, h\u00e1 50% de chance de transmitir o cromossomo X com o gene CLCN4 funcional e 50% de chance de transmitir o cromossomo X com a altera\u00e7\u00e3o do gene CLCN4 (veja o diagrama abaixo).<\/p>\n

Isso significa que, para cada gravidez, uma mulher portadora de CLCN4 teria:<\/p>\n

[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”1_2,1_2″ custom_padding_last_edited=”on|phone” _builder_version=”4.5.8″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px”][et_pb_column type=”1_2″ _builder_version=”4.5.8″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.5.8″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em” custom_padding=”||101px|||”]<\/p>\n