A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.

ABSTRACT: The large majority of cases with intellectual disability are syndromic (i.e. occur with other well-defined clinical phenotypes) and have been studied extensively. Autosomal recessive nonsyndromic intellectual disability is a group of genetically heterogeneous disorders for which a number of potentially causative genes have been identified although the molecular basis of most of them remains unexplored. Here, we report the clinical characteristics and genetic findings of a family with two male siblings affected with autosomal recessive nonsyndromic intellectual disability. Whole exome sequencing was carried out on two affected male siblings and unaffected parents. A potentially pathogenic variant identified in this study was confirmed by Sanger sequencing to be inherited in an autosomal rec

SUBMITTER: Muthusamy B 

PROVIDER: S-EPMC7247441 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature