Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.

ABSTRACT: The oculocerebrorenal syndrome of Lowe is a rare X-linked disease characterized by congenital cataracts, proximal renal tubulopathy, muscular hypotonia and mental impairment. This disease is caused by mutations in the OCRL gene encoding membrane bound inositol polyphosphate 5-phosphatase OCRL1. Here, we examined the OCRL gene of two Lowe syndrome patients and report two new missense mutations that affect the ASH domain involved in protein-protein interactions. Genomic DNA was extracted from peripheral blood of two non-related patients and their relatives. Exons and flanking intronic regions of OCRL were analyzed by direct sequencing. Several bioinformatics tools were used to assess the pathogenicity of the variants. The three-dimensional structure of wild-type and muta

SUBMITTER: Perdomo-Ramirez A 

PROVIDER: S-EPMC7586875 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature