see publications<\/a>). More individuals will be diagnosed as genomic testing is more commonly used for undiagnosed intellectual disability.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbVideo\u00a0\u00bb _builder_version=\u00a0\u00bb4.16″ background_color=\u00a0\u00bb#3a897e\u00a0\u00bb custom_padding=\u00a0\u00bb0|1px|0|0px|false|false\u00a0\u00bb collapsed=\u00a0\u00bboff\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_row _builder_version=\u00a0\u00bb4.16″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″ _builder_version=\u00a0\u00bb4.16″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_divider show_divider=\u00a0\u00bboff\u00a0\u00bb _builder_version=\u00a0\u00bb4.16″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb 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Hommes avec une condition li\u00e9e \u00e0 CLCN4<\/h2>\n
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Jusqu’\u00e0 pr\u00e9sent, cette affection s’est toujours r\u00e9v\u00e9l\u00e9e \u00eatre enti\u00e8rement p\u00e9n\u00e9trante chez les m\u00e2les affect\u00e9s. Cependant, la gravit\u00e9 des sympt\u00f4mes peut varier consid\u00e9rablement dans une famille. La pr\u00e9sence d’un trouble convulsif intraitable est g\u00e9n\u00e9ralement associ\u00e9e \u00e0 un ph\u00e9notype plus s\u00e9v\u00e8re. Les principales caract\u00e9ristiques cliniques des m\u00e2les et des femelles publi\u00e9s sont r\u00e9sum\u00e9es ci-dessous : 1. D\u00e9ficience intellectuelle (DI) :<\/strong> pr\u00e9sente chez 100 % des m\u00e2les affect\u00e9s. La gravit\u00e9 de la d\u00e9ficience intellectuelle varie de limite (1\/30 : 3%), \u00e0 l\u00e9g\u00e8re (7\/30 : 23%), mod\u00e9r\u00e9e 9\/30 : 30%) et s\u00e9v\u00e8re\/profonde (13\/30 : 43%). Le langage expressif et r\u00e9ceptif est g\u00e9n\u00e9ralement un domaine particuli\u00e8rement pr\u00e9occupant. 2. Des crises d’\u00e9pilepsie<\/strong> ont \u00e9t\u00e9 diagnostiqu\u00e9es chez 53% des hommes affect\u00e9s. Les crises ont \u00e9t\u00e9 bien contr\u00f4l\u00e9es chez 44% de ceux qui ont des crises et intraitables \u00e0 la polyth\u00e9rapie chez 55% de ceux qui ont des crises. La s\u00e9miologie des crises peut varier de crises peu fr\u00e9quentes, bien contr\u00f4l\u00e9es par une monoth\u00e9rapie, \u00e0 une \u00e9pilepsie infantile s\u00e9v\u00e8re et intraitable, m\u00eame au sein d’une m\u00eame famille. Les types de crises signal\u00e9s comprennent les spasmes infantiles, l’absence, la myoclonie, la tonicit\u00e9, les crises partielles complexes et la tonico-clonique g\u00e9n\u00e9ralis\u00e9e. Les r\u00e9sultats de l’EEG signal\u00e9s comprennent des pointes focales, des pointes multifocales et un ralentissement de fond g\u00e9n\u00e9ralis\u00e9. 3. Probl\u00e8mes comportementaux\/troubles de la sant\u00e9 mentale<\/strong> (19\/30 (63%). Certains hommes ont \u00e9t\u00e9 signal\u00e9s comme ayant une personnalit\u00e9 aimable et ne pr\u00e9sentant pas de comportements difficiles ou de probl\u00e8mes de sant\u00e9 mentale importants, mais 63% ont \u00e9t\u00e9 signal\u00e9s comme pr\u00e9sentant des probl\u00e8mes de comportement ou de sant\u00e9 mentale importants, notamment un comportement h\u00e9t\u00e9ro- et auto-agressif, un comportement r\u00e9p\u00e9titif de type autistique ou obsessionnel-compulsif et une hyperactivit\u00e9. Des sympt\u00f4mes de d\u00e9pression ou d’anxi\u00e9t\u00e9 ont \u00e9t\u00e9 signal\u00e9s chez 24% des gar\u00e7ons, dont un diagnostic de trouble bipolaire. 4. Sympt\u00f4mes neurologiques suppl\u00e9mentaires:<\/strong> infantile\u00a0 une hypotonie a \u00e9t\u00e9 signal\u00e9e chez 9 m\u00e2les dans 7 familles. Les autres signes neurologiques signal\u00e9s pendant l’enfance comprenaient un strabisme (3 gar\u00e7ons), une d\u00e9ficience visuelle corticale (2 gar\u00e7ons), une anomalie de la d\u00e9marche (1 gar\u00e7on), des mouvements chor\u00e9graphiques des membres sup\u00e9rieurs (1 gar\u00e7on) et une spasticit\u00e9 \u00e9volutive des membres sup\u00e9rieurs \/ g\u00e9n\u00e9ralis\u00e9e pendant l’enfance (2 gar\u00e7ons). Une ataxie progressive et\/ou une spasticit\u00e9 des membres inf\u00e9rieurs ont \u00e9t\u00e9 d\u00e9crites apr\u00e8s la troisi\u00e8me d\u00e9cennie chez 4 m\u00e2les de 2 familles. Des donn\u00e9es longitudinales suppl\u00e9mentaires seront n\u00e9cessaires pour \u00e9valuer la fr\u00e9quence des sympt\u00f4mes neurologiques progressifs chez les m\u00e2les atteints. 5. Neuroimagerie:<\/strong> Des anomalies en neuroimagerie\/neuropathologie ont \u00e9t\u00e9 not\u00e9es chez 8 m\u00e2les test\u00e9s dans 6 familles. Cependant, de nombreux m\u00e2les n’ont pas subi de neuroimagerie : l’IRM c\u00e9r\u00e9brale \u00e9tait normale chez 4 autres m\u00e2les. Les anomalies de la substance blanche et l’atrophie corticale \u00e9taient caract\u00e9ristiques : une leucomalacie p\u00e9riventriculaire et\/ou une dilatation ventriculaire ont \u00e9t\u00e9 not\u00e9es dans l’enfance avec des caract\u00e9ristiques suppl\u00e9mentaires de my\u00e9linisation retard\u00e9e et de corps calleux hypoplasique dans la petite enfance et d’atrophie corticale \u00e0 l’\u00e2ge moyen et avanc\u00e9. 6. Param\u00e8tres de croissance et dysmorphisme:<\/strong> Les traits distinctifs communs des hommes \u00e2g\u00e9s sont un visage long avec un nez droit et un menton pointu pro\u00e9minent, qui devient plus \u00ab\u00a0carr\u00e9\u00a0\u00bb avec l’\u00e2ge, et un milieu de visage relativement plat. Les traits du visage ne sont pas aussi caract\u00e9ristiques chez les hommes plus jeunes. Les param\u00e8tres de croissance se situent g\u00e9n\u00e9ralement dans la fourchette normale, mais de nombreux individus plus \u00e2g\u00e9s ont une silhouette maigre et une micro et macroc\u00e9phalie a \u00e9t\u00e9 constat\u00e9e. 7. Caract\u00e9ristiques suppl\u00e9mentaires:<\/strong> Aucun sch\u00e9ma coh\u00e9rent de sympt\u00f4mes extra-neurocognitifs n’a \u00e9t\u00e9 signal\u00e9, et de nombreuses caract\u00e9ristiques sont couramment observ\u00e9es chez les enfants atteints de DI d’autres causes : notamment le reflux gastro-\u0153sophagien et les difficult\u00e9s d’alimentation pr\u00e9coces. Une scoliose, une cryptorchidie et une hernie inguinale ont \u00e9t\u00e9 occasionnellement signal\u00e9es.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbVideo\u00a0\u00bb _builder_version=\u00a0\u00bb4.16″ background_color=\u00a0\u00bb#3a897e\u00a0\u00bb custom_padding=\u00a0\u00bb0|1px|0|0px|false|false\u00a0\u00bb collapsed=\u00a0\u00bboff\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_row _builder_version=\u00a0\u00bb4.16″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″ _builder_version=\u00a0\u00bb4.16″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_divider show_divider=\u00a0\u00bboff\u00a0\u00bb _builder_version=\u00a0\u00bb4.16″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb 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Femmes h\u00e9t\u00e9rozygotes avec des variants familiaux (18 individus publi\u00e9s)<\/h2>\n
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Le ph\u00e9notype des femelles porteuses de variantes familiales de la CLCN4 a \u00e9t\u00e9 signal\u00e9 comme \u00e9tant \u00e9tonnamment variable, allant d’une absence totale d’affectation \u00e0 une affectation s\u00e9v\u00e8re, m\u00eame au sein d’une m\u00eame famille. Deux femmes porteuses obligatoires d’une famille ont not\u00e9 des difficult\u00e9s subtiles d’apprentissage\/de comportement. Une femelle h\u00e9t\u00e9rozygote d’une autre famille pr\u00e9sentait une DI s\u00e9v\u00e8re, un trouble \u00e9pileptique r\u00e9fractaire, une atrophie c\u00e9r\u00e9brale et une spasticit\u00e9 et une ataxie progressives. Aucun diagnostic alternatif n’a \u00e9t\u00e9 trouv\u00e9 chez cette femelle gravement atteinte.<\/p>\n
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Femmes h\u00e9t\u00e9rozygotes avec des variants de novo (5 individus publi\u00e9s)<\/h2>\n
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Le ph\u00e9notype des 5 femelles h\u00e9t\u00e9rozygotes rapport\u00e9es avec des variants de novo s’est av\u00e9r\u00e9 plus s\u00e9v\u00e8re et conforme au ph\u00e9notype des m\u00e2les h\u00e9mizygotes. 1. D\u00e9ficience intellectuelle<\/strong> Une femelle affect\u00e9e pr\u00e9sentait une d\u00e9ficience intellectuelle limite, 2 une d\u00e9ficience intellectuelle mod\u00e9r\u00e9e et 2 une d\u00e9ficience intellectuelle grave-profonde ; l\u00e0 encore, le d\u00e9veloppement du langage, en particulier le langage expressif, a \u00e9t\u00e9 not\u00e9 comme un domaine particuli\u00e8rement pr\u00e9occupant. 2. Trouble \u00e9pileptique<\/strong> Deux filles porteuses de variantes de novo pr\u00e9sentent des troubles \u00e9pileptiques de gravit\u00e9 variable. 3. Troubles du comportement\/de la sant\u00e9 mentale<\/strong> Deux filles ont des comportements d’automutilation, l’une d’entre elles a \u00e9t\u00e9 \u00e9valu\u00e9e comme \u00e9tant \u00e9motionnellement r\u00e9active ; les deux autres filles n’ont pas de probl\u00e8mes comportementaux significatifs. 4. Sympt\u00f4mes neurologiques<\/strong> Trois filles pr\u00e9sentaient une hypotonie infantile et une a d\u00e9velopp\u00e9 un tonus p\u00e9riph\u00e9rique l\u00e9g\u00e8rement accru avec des r\u00e9flexes rotuliens vifs. 5. Modifications de la neuro-imagerie<\/strong> Quatre filles ont subi une neuro-imagerie par IRM : rapport\u00e9e comme normale pour 2 d’entre elles ; il y avait une neuropathologie subtile chez les 2 autres avec une hypoplasie diffuse du cortex et du corps calleux chez l’une et un \u00e9largissement persistant du troisi\u00e8me ventricule et des hyperintensifications sous-corticales T2\/FLAIR chez l’autre. 6. Param\u00e8tres de croissance\/dysmorphisme<\/strong> Deux des filles pr\u00e9sentant des variantes de novo ont une microc\u00e9phalie. Il existe des preuves \u00e9mergentes qu’une variante r\u00e9currente particuli\u00e8re chez les femelles est associ\u00e9e \u00e0 un retard de croissance important et \u00e0 une petite taille. Des caract\u00e9ristiques dysmorphiques subtiles ont \u00e9t\u00e9 not\u00e9es chez 3 filles, notamment des fissures palp\u00e9brales en pente descendante avec une ar\u00eate nasale d\u00e9prim\u00e9e. 7. Caract\u00e9ristiques suppl\u00e9mentaires<\/strong> Deux des cinq filles pr\u00e9sentaient d’importantes difficult\u00e9s d’alimentation dans la petite enfance ; l’une d’entre elles pr\u00e9sentait une hernie diaphragmatique cong\u00e9nitale (HDC) et une dysplasie bilat\u00e9rale de la hanche et l’autre une scoliose. 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Contacte-nous. Implique-toi.<\/h2>\n
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Caract\u00e9ristiques cliniquesThe clinical phenotype of CLCN4-related condition can include intellectual disability or specific learning disabilities, autistic features, an increased chance of depression and anxiety, infantile hypotonia, epilepsy, movement disorders including gait disturbance, white matter changes on cerebral imaging, feeding difficulties, short stature\/ failure to thrive and functional bowel abnormalities. To date clinical information is published […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-3530","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3530","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/comments?post=3530"}],"version-history":[{"count":3,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3530\/revisions"}],"predecessor-version":[{"id":7490,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3530\/revisions\/7490"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/media?parent=3530"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}