{"id":2198,"date":"2021-11-25T11:30:48","date_gmt":"2021-11-25T11:30:48","guid":{"rendered":"https:\/\/cureclcn4.org\/genetica\/"},"modified":"2025-12-16T12:01:40","modified_gmt":"2025-12-16T12:01:40","slug":"genetica","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/it\/genetica\/","title":{"rendered":"Genetica"},"content":{"rendered":"

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Genetica di CLCN4<\/h1>\n

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La genetica di CLCN4, cio\u00e8 come la condizione \u00e8 causata e come pu\u00f2 essere trasmessa nelle famiglie, \u00e8 complicata.<\/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

Raccomandiamo a tutte le famiglie di chiedere consiglio ad un professionista della genetica clinica, chiedendo al medico di famiglia (GP) o al pediatra di indirizzarle ad un servizio di genetica. Per maggiori informazioni su come accedere ai servizi di genetica veda qui<\/a> (Regno Unito) o qui<\/a> (Australia\/Nuova Zelanda) o qui (USA).<\/p>\n

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I maschi e le femmine sono colpiti in modo diverso?<\/h2>\n

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I maschi hanno solo un cromosoma X: ereditano un cromosoma X dalla madre e un cromosoma Y dal padre. Questo significa che i maschi hanno solo una copia del gene CLCN4<\/strong> – non hanno una copia di ‘riserva’ se hanno un’anomalia nel gene CLCN4<\/strong>. I maschi con un cambiamento del gene CLCN4<\/strong> (ereditato dalla madre o dovuto ad un cambiamento de novo) avranno sintomi di CLCN4<\/strong> – ma questi sintomi possono variare ampiamente in gravit\u00e0 e frequenza.<\/p>\n

[\/et_pb_blurb][et_pb_blurb title=”Per le femmine \u00e8 pi\u00f9 complicato!” 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

Le femmine hanno due cromosomi X: ereditano un cromosoma X dalla madre e un altro cromosoma X dal padre. Questo significa che potenzialmente hanno una copia funzionante “di riserva” del gene CLCN4. Tuttavia, in generale le femmine hanno solo una copia funzionale di un cromosoma X in ogni cellula a causa di un processo chiamato ‘inattivazione del cromosoma X<\/a>‘. La nostra comprensione attuale \u00e8 che quanto gravemente una femmina sar\u00e0 colpita da CLCN4 dipende da quale proporzione delle cellule del suo cervello inattiva la copia del cromosoma X con il glitch CLCN4 e quale proporzione delle cellule del suo cervello inattiva la copia del cromosoma X con la copia funzionante del gene. Quanto gravemente sar\u00e0 colpita una femmina sembra essere influenzato anche dal fatto che il cambiamento del gene sia avvenuto per la prima volta al momento del concepimento (un cambiamento de novo: vedi sotto) o che il cambiamento del gene sia stato ereditato. Le femmine che ereditano un cromosoma X con un cambiamento del gene CLCN4 sono spesso chiamate ‘portatrici’. Le femmine portatrici possono non avere alcun sintomo o possono avere alcuni sintomi della condizione legata a CLCN4, di solito (ma non sempre) all’estremit\u00e0 lieve dello spettro. Alcune portatrici possono, per esempio, avere lievi problemi di apprendimento o di linguaggio o una maggiore probabilit\u00e0 di condizioni di salute mentale (ansia e\/o depressione). D’altra parte, le femmine con un cambiamento del gene CLCN4 de novo hanno spesso una gamma di sintomi simile a quella dei maschi. Quindi, in sintesi:<\/strong> I maschi con un glitch CLCN4 hanno sempre dei sintomi, le femmine con un glitch CLCN4 potrebbero essere completamente non affette, avere sintomi lievi o pi\u00f9 gravi. \u00c8 pi\u00f9 probabile che siano affette se il cambiamento del gene \u00e8 avvenuto de novo (quando sono state concepite) piuttosto che essere ereditato da un genitore. Abbiamo ancora molto da imparare per capire meglio questa complessit\u00e0.<\/p>\n

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Come possono i bambini avere una condizione correlata a 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

I bambini possono avere una condizione di CLCN4 de novo o ereditata. Per sapere con certezza quale sia la situazione nella sua famiglia, \u00e8 necessario il test genetico dei genitori. Dopo il test dei genitori questa informazione dovrebbe essere inclusa nel rapporto del test genetico di suo figlio. De Novo Cambiamenti genetici CLCN4.<\/strong> Un individuo pu\u00f2 nascere con un nuovo (de novo) cambiamento genetico nel gene CLCN4, che non \u00e8 ereditato dalla madre o dal padre. Questo di solito avviene perch\u00e9 il difetto CLCN4 si \u00e8 verificato per la prima volta al momento del concepimento (quando l’uovo e lo sperma si sono uniti per formare un bambino). La condizione relativa a CLCN4 non \u00e8 stata causata da qualcosa che un genitore ha fatto o non ha fatto, come l’assunzione di determinati farmaci o esposizioni ambientali, avviene semplicemente per caso. Non \u00e8 stata una ‘colpa’ di nessuno. C’\u00e8 una probabilit\u00e0 molto bassa (stimata in 1 su 100) che anche i fratelli di un bambino con un difetto CLCN4 de novo siano affetti da CLCN4. Tuttavia, la probabilit\u00e0 non \u00e8 nulla, poich\u00e9 molto occasionalmente il glitch si \u00e8 verificato in una chiazza di ovuli nella madre o di sperma nel padre (mosaicismo germinale<\/a>). I maschi con un cambiamento genetico CLCN4 de novo manifesteranno i sintomi della condizione legata a CLCN4. Le femmine con un cambiamento genetico CLCN4 de novo sembrano mostrare una gamma di sintomi simile ai maschi. \u00a0<\/p>\n

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Cambiamenti genetici CLCN4 ereditati<\/h2>\n

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In alternativa, un individuo pu\u00f2 ereditare un cambiamento genetico CLCN4 su un cromosoma X da un genitore. Ci\u00f2 significa che un genitore \u00e8 affetto o portatore di CLCN4. Circa \u00be delle volte, i maschi ereditano il cambio genetico CLCN4 dalla madre.<\/p>\n

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Quali sono le probabilit\u00e0 che una donna portatrice abbia un figlio con una condizione correlata a CLCN4?<\/h2>\n

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Le persone con CLCN4 o che sono portatrici di CLCN4 hanno delle scelte quando pianificano i figli e queste opzioni possono essere discusse ulteriormente con un genetista clinico. Quando una donna portatrice ha dei figli, per ogni gravidanza c’\u00e8 il 50% di possibilit\u00e0 di trasmettere il cromosoma X con il gene CLCN4 funzionante e il 50% di trasmettere il cromosoma X con il cambiamento del gene CLCN4 (vedere il diagramma sottostante). Ci\u00f2 significa che per ogni gravidanza una donna portatrice di CLCN4 avrebbe:<\/p>\n

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