Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

ABSTRACT: Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed using DNA samples from 22 consanguineous Pakistani families with ARID, of which 21 have additional phenotypes including microcephaly. To aid in variant identification, homozygosity mapping and linkage analysis were performed. DNA samples from affected family member(s) from every pedigree underwent exome sequencing. Identified rare damaging exome variants were tested for co-segregation with ID using Sanger sequencing. For seven ARID families, variants were identified in genes not previously associa

SUBMITTER: Santos-Cortez RLP 

PROVIDER: S-EPMC6201268 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature