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Ciz1-Loss Causes Female-Specific Autosomal Neurodevelopmental Disorder Through Defective X-Inactivation Maintenance

2025-12-20 genetic and genomic medicine Title + abstract only
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We report an autosomal recessive neurodevelopmental disorder exclusively affecting females carrying biallelic loss-of-function variants in CIZ1, a gene encoding a nuclear matrix protein essential for the maintenance of X-chromosome inactivation. Eight unrelated affected females were identified, whereas male siblings with biallelic variants were asymptomatic. We showed that loss of CIZ1 compromises the maintenance of X-chromosome inactivation, leading to an abnormal overexpression of a subset of ...

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