Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

ABSTRACT: Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes. Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bio

SUBMITTER: Riazuddin S 

PROVIDER: S-EPMC5658665 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature