WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

ABSTRACT: Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pathways and processes. Some of them are not specific to the development and functioning of the neural system. The implementation of exome sequencing simplifies the search for novel variants, especially those less expected. Here, we describe a nonsense variant of the XLID gene, WDR13. The mutation c.757C>T (p.Arg253Ter) was uncovered by X-chromosome exome sequencing in males with a familial form of intellectual disability. Quantitative PCR (qPCR) analysis showed that variant c.757C>T caused a significant decrease in WDR13 expression in the pati

SUBMITTER: Rzonca-Niewczas S 

PROVIDER: S-EPMC8701106 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature