Ubiquitin-Specific Protease 9

Female-Restricted X-Linked Syndromic Mental Retardation-99, USP9X, X-Linked Mental Retardation-99


Type of disease: Rare Condition or Disease

The USP9X gene encodes a large substrate-specific deubiquitylating enzyme. Its cytogenetic location: Xp11.4

Female-restricted X-linked syndromic intellectual disability-99; X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females is one variant expression of USP9X gene.
80%-99% of people have these symptoms: global developmental delay, intellectual disability, moderate
IQ between 34 and 49 30%-79% of people have these symptoms abnormal cortical gyration, anal atresia,
absent anus, choanal atresia, blockage of the rear opening of the nasal cavity.

USP9X can express as X-Linked Mental Retardation-99. The USP9X mutations caused changes in the neuronal cytoskeleton, which may affect neuronal migration and axonal growth, resulting in intellectual disability.

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