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Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10 - Journal of Human Genetics

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Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10 - Journal of Human Genetics

The RNA-binding motif protein 10, RBM10, is an RNA splicing regulator essential for development. Loss-of-function RBM10 variants are associated with TARP syndrome, a severe X-linked recessive condition in males. We report a 3-year-old male with a mild phenotype, consisting of cleft palate, hypotonia, developmental delay, and minor dysmorphisms, associated with a missense RBM10 variant, c.943T>C, p.Ser315Pro, affecting the RRM2 RNA-binding domain.

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Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10 - Journal of Human Genetics

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Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10 - Journal of Human Genetics

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