CASK is an X‐linked gene in mammals and its deletion in males is incompatible with life. CASK heterozygous mutations in female patients associate with intellectual disability, microcephaly, pontocerebellar hypoplasia, and optic nerve hypoplasia, whereas CASK hemizygous mutations in males manifest as early infantile epileptic encephalopathy with a grim prognosis. Here, we report a rare case of survival of a male patient harboring a CASK null mutation to adolescent age.

中文翻译：

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携带CASK Arg27Ter突变至青春期的男性患者的生存。

CASK在哺乳动物中是X连锁基因，在雄性中它的缺失与生命不相容。女性患者的CASK杂合突变与智力障碍，小头畸形，脑小脑发育不全和视神经发育不全相关，而男性的CASK半合突变则表现为早期婴儿癫痫性脑病，预后很差。在这里，我们报告了一个罕见的男性患者生存情况，该患者携带CASK null突变至青春期。