Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

ABSTRACT:

Background

Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The identification of genetic variants causing ID and neurodevelopmental disorders using whole-exome sequencing (WES) has proven to be successful. So far more than 1222 primary and 1127 candidate genes are associated with ID.

Methods

To determine pathogenic variants causative of ID in three unrelated consanguineous Pakistani families, we used a combination of WES, homozygosity-by-descent mapping, de-deoxy sequencing and bioinformatics analysis.

Results

Rare pathogenic single nucleotide vari

SUBMITTER: Ilyas M 

PROVIDER: S-EPMC7092478 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature