A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.

Abstract excerpt

RBM10, is an RNA binding protein that is important for development by regulating the expression of multiple genes. RBM10 is on the X chromosome, and nonsense and frameshift RBM10 variants cause TARP syndrome in males. In a 4-year-old male, we identified a novel maternally inherited missense RBM10 variant in the RRM2 RNA binding domain, c.965C>T, p.Pro322Leu. His clinical features included intellectual disability,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Clubfoot
• Share to Craniofacial Abnormalities