A Homozygous Missense Variant in < b > < i > INPP5E < /i > < /b > Associated with Joubert Syndrome and Related Disorders

We report a novel homozygous mutation identified in theINPP5E gene, c.1303C>T, which leads to a change of an amino acid from arginine to tryptophan at residue 435 in the protein chain. In silico analysis indicates that p.Arg435Trp substitution affects the functionality of the protein product of the gene. Our result adds to the growing body of evidences that underlines the clinical utility of next-generation sequencing in the diagnosis of a genetic disorder when clinical features are inconclusive.Mol Syndromol 2017;8:313-317
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research