{"id":3545,"date":"2023-01-11T13:29:29","date_gmt":"2023-01-11T13:29:29","guid":{"rendered":"https:\/\/cureclcn4.org\/genetique\/"},"modified":"2025-12-16T12:00:56","modified_gmt":"2025-12-16T12:00:56","slug":"genetique","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/fr\/genetique\/","title":{"rendered":"G\u00e9n\u00e9tique"},"content":{"rendered":"

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G\u00e9n\u00e9tique du CLCN4 <\/h1>\n

[\/et_pb_text][et_pb_text _builder_version=\u00a0\u00bb4.5.8″ text_font=\u00a0\u00bb||||||||\u00a0\u00bb text_font_size=\u00a0\u00bb18px\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb header_font=\u00a0\u00bbFaustina||||||||\u00a0\u00bb header_text_color=\u00a0\u00bb#0e7162″ header_font_size=\u00a0\u00bb60px\u00a0\u00bb header_line_height=\u00a0\u00bb1.3em\u00a0\u00bb custom_margin=\u00a0\u00bb||17px|||\u00a0\u00bb]<\/p>\n

La g\u00e9n\u00e9tique de la CLCN4, c’est-\u00e0-dire la mani\u00e8re dont la maladie est provoqu\u00e9e et dont elle peut \u00eatre transmise dans les familles, est complexe.<\/p>\n

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Nous recommandons \u00e0 toutes les familles de demander conseil \u00e0 un professionnel de la g\u00e9n\u00e9tique clinique, en demandant \u00e0 leur m\u00e9decin de famille (GP) ou \u00e0 leur p\u00e9diatre de les orienter vers un service de g\u00e9n\u00e9tique.<\/p>\n

Pour plus d’informations sur l’acc\u00e8s aux services de g\u00e9n\u00e9tique, voir ici <\/a> (Royaume-Uni), ici<\/a> (Australie\/Nouvelle-Z\u00e9lande) ou ici (\u00c9tats-Unis).<\/p>\n

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Les hommes et les femmes sont-ils affect\u00e9s diff\u00e9remment ?<\/h2>\n

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Les hommes ne poss\u00e8dent qu’un seul chromosome X : ils h\u00e9ritent d’un chromosome X de leur m\u00e8re et d’un chromosome Y de leur p\u00e8re. Cela signifie que les m\u00e2les ne poss\u00e8dent qu’une seule copie du g\u00e8ne CLCN4<\/strong> – ils n’ont pas de copie de secours en cas de d\u00e9faillance du g\u00e8ne CLCN4<\/strong>. <\/p>\n

Les hommes pr\u00e9sentant une modification du g\u00e8ne CLCN4<\/strong> (soit h\u00e9rit\u00e9e de leur m\u00e8re, soit due \u00e0 une modification de novo) pr\u00e9senteront des sympt\u00f4mes de CLCN4<\/strong> – mais ces sympt\u00f4mes peuvent varier consid\u00e9rablement en termes de gravit\u00e9 et de fr\u00e9quence.<\/p>\n

[\/et_pb_blurb][et_pb_blurb title=\u00a0\u00bbPour les femmes, c'est plus compliqu\u00e9 !\u00a0\u00bb content_max_width=\u00a0\u00bb800px\u00a0\u00bb _builder_version=\u00a0\u00bb4.5.8″ header_font=\u00a0\u00bb|700|||||||\u00a0\u00bb header_font_size=\u00a0\u00bb16px\u00a0\u00bb header_line_height=\u00a0\u00bb2em\u00a0\u00bb body_line_height=\u00a0\u00bb2em\u00a0\u00bb]<\/p>\n

Les femmes ont deux chromosomes X : elles h\u00e9ritent d’un chromosome X de leur m\u00e8re et d’un autre chromosome X de leur p\u00e8re. Cela signifie qu’ils ont potentiellement une copie de travail \u00ab\u00a0de secours\u00a0\u00bb du g\u00e8ne CLCN4. Cependant, en g\u00e9n\u00e9ral, les femmes ne poss\u00e8dent qu’une seule copie fonctionnelle d’un chromosome X dans chaque cellule, en raison d’un processus appel\u00e9 \u00ab\u00a0inactivation du chromosome X<\/a>\u00ab\u00a0. Selon nos connaissances actuelles, la gravit\u00e9 de l’atteinte d’une femme par le g\u00e8ne CLCN4 d\u00e9pend de la proportion de cellules de son cerveau qui inactivent la copie du chromosome X pr\u00e9sentant le d\u00e9faut CLCN4, et de la proportion de cellules de son cerveau qui inactivent la copie du chromosome X pr\u00e9sentant la copie fonctionnelle du g\u00e8ne.<\/p>\n

La gravit\u00e9 de l’atteinte d’une femme semble \u00e9galement \u00eatre influenc\u00e9e par le fait que le changement de g\u00e8ne s’est produit pour la premi\u00e8re fois lors de la conception (changement de novo : voir ci-dessous) ou que le changement de g\u00e8ne a \u00e9t\u00e9 h\u00e9rit\u00e9.<\/p>\n

Les femmes qui h\u00e9ritent d’un chromosome X pr\u00e9sentant une modification du g\u00e8ne CLCN4 sont souvent appel\u00e9es \u00ab\u00a0porteuses\u00a0\u00bb. Les femmes porteuses peuvent ne pr\u00e9senter aucun sympt\u00f4me ou pr\u00e9senter certains sympt\u00f4mes d’une affection li\u00e9e au CLCN4, g\u00e9n\u00e9ralement (mais pas toujours) \u00e0 l’extr\u00e9mit\u00e9 l\u00e9g\u00e8re du spectre. Certaines femmes porteuses peuvent, par exemple, pr\u00e9senter de l\u00e9gers probl\u00e8mes d’apprentissage ou d’\u00e9locution ou un risque accru de troubles mentaux (anxi\u00e9t\u00e9 et\/ou d\u00e9pression).<\/p>\n

En revanche, les femmes pr\u00e9sentant une modification de novo du g\u00e8ne CLCN4 pr\u00e9sentent souvent un \u00e9ventail de sympt\u00f4mes similaire \u00e0 celui des hommes.<\/p>\n

En gros :<\/strong>
Les mecs avec un probl\u00e8me au niveau du g\u00e8ne CLCN4 ont toujours des sympt\u00f4mes, tandis que les filles avec le m\u00eame probl\u00e8me peuvent ne pas avoir de sympt\u00f4mes du tout, avoir des sympt\u00f4mes l\u00e9gers ou plus graves. Ils sont plus susceptibles d’\u00eatre affect\u00e9s si le changement de g\u00e8ne s’est produit de novo (lorsqu’ils ont \u00e9t\u00e9 con\u00e7us) plut\u00f4t que d’\u00eatre h\u00e9rit\u00e9 d’un parent. Nous avons encore beaucoup \u00e0 apprendre pour mieux comprendre cette complexit\u00e9.<\/p>\n

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Comment les enfants peuvent-ils \u00eatre atteints d’une affection li\u00e9e au CLCN4 ?<\/h2>\n

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Les enfants peuvent \u00eatre atteints d’une maladie de novo ou d’une maladie h\u00e9r\u00e9ditaire li\u00e9e \u00e0 la CLCN4. Pour savoir avec certitude quelle est la situation dans votre famille, un test g\u00e9n\u00e9tique des parents est n\u00e9cessaire. Apr\u00e8s le test parental, cette information doit \u00eatre incluse dans le rapport de test g\u00e9n\u00e9tique de votre enfant.<\/p>\n

Modifications g\u00e9n\u00e9tiques de novo du g\u00e8ne CLCN4.<\/strong>
Une personne peut na\u00eetre avec une nouvelle modification g\u00e9n\u00e9tique (de novo) du g\u00e8ne CLCN4, qui n’est pas h\u00e9rit\u00e9e de sa m\u00e8re ou de son p\u00e8re. Cela s’explique g\u00e9n\u00e9ralement par le fait que la d\u00e9faillance du CLCN4 s’est produite pour la premi\u00e8re fois lors de la conception du b\u00e9b\u00e9 (lorsque l’ovule et le sperme se sont r\u00e9unis pour former un b\u00e9b\u00e9). L’affection li\u00e9e au CLCN4 n’a pas \u00e9t\u00e9 caus\u00e9e par ce qu’un parent a fait ou n’a pas fait, comme la prise de certains m\u00e9dicaments ou l’exposition \u00e0 l’environnement, elle est le fruit du hasard. Ce n’\u00e9tait la faute de personne.<\/p>\n

Il existe une tr\u00e8s faible probabilit\u00e9 (estim\u00e9e \u00e0 1 sur 100) que les fr\u00e8res et s\u0153urs d’un enfant pr\u00e9sentant une anomalie CLCN4 de novo soient \u00e9galement affect\u00e9s par la CLCN4. Toutefois, la probabilit\u00e9 n’est pas nulle, car il arrive tr\u00e8s rarement que le probl\u00e8me se produise dans une parcelle d’ovules de la m\u00e8re ou de sperme du p\u00e8re(mosa\u00efcisme germinal<\/a>).<\/p>\n

Les hommes pr\u00e9sentant une modification g\u00e9n\u00e9tique de novo de la CLCN4 pr\u00e9senteront des sympt\u00f4mes d’une affection li\u00e9e \u00e0 la CLCN4. Les femmes pr\u00e9sentant une modification g\u00e9n\u00e9tique de novo de la CLCN4 semblent pr\u00e9senter un \u00e9ventail de sympt\u00f4mes similaire \u00e0 celui des hommes.<\/p>\n

 <\/p>\n

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Modifications g\u00e9n\u00e9tiques h\u00e9r\u00e9ditaires de la CLCN4<\/h2>\n

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Une personne peut \u00e9galement h\u00e9riter d’un changement g\u00e9n\u00e9tique CLCN4 sur un chromosome X d’un parent. Cela signifie qu’un parent est soit atteint, soit porteur du CLCN4. Dans environ \u00be des cas, les m\u00e2les h\u00e9ritent du changement du g\u00e8ne CLCN4 de leur m\u00e8re.<\/p>\n

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background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb40px|80px|27px|80px|false|true\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb\u00a0\u00bb custom_padding_phone=\u00a0\u00bb|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3″ box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″ _builder_version=\u00a0\u00bb3.25″ custom_padding=\u00a0\u00bb|||\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_text _builder_version=\u00a0\u00bb4.5.8″ text_font=\u00a0\u00bbFaustina||||||||\u00a0\u00bb text_font_size=\u00a0\u00bb24px\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb link_font=\u00a0\u00bb|700|||||||\u00a0\u00bb 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Quelles sont les chances qu’une femme porteuse ait un enfant atteint d’une maladie li\u00e9e au CLCN4 ?<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb _builder_version=\u00a0\u00bb4.5.8″ background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb29px|80px|28px|80px|false|false\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb|80px||80px|false|true\u00a0\u00bb custom_padding_phone=\u00a0\u00bb40px|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3″ box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″ _builder_version=\u00a0\u00bb4.5.8″ custom_padding=\u00a0\u00bb|||\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_blurb content_max_width=\u00a0\u00bb800px\u00a0\u00bb _builder_version=\u00a0\u00bb4.5.8″ header_font=\u00a0\u00bb|700|||||||\u00a0\u00bb header_font_size=\u00a0\u00bb16px\u00a0\u00bb header_line_height=\u00a0\u00bb2em\u00a0\u00bb body_line_height=\u00a0\u00bb2em\u00a0\u00bb]<\/p>\n

Les personnes atteintes du syndrome CLCN4 ou porteuses du syndrome CLCN4 ont le choix lorsqu’elles envisagent d’avoir des enfants et ces options peuvent \u00eatre discut\u00e9es plus en d\u00e9tail avec un g\u00e9n\u00e9ticien clinique.<\/p>\n

Lorsqu’une femme porteuse a des enfants, pour chaque grossesse, il y a 50 % de chances de transmettre le chromosome X avec le g\u00e8ne CLCN4 fonctionnel et 50 % de chances de transmettre le chromosome X avec le changement de g\u00e8ne CLCN4 (voir le sch\u00e9ma ci-dessous).<\/p>\n

Cela signifie que, pour chaque grossesse, une femme porteuse du CLCN4 aurait :<\/p>\n

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