De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

ABSTRACT: The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants. We also emphasize on the effectiveness of singleton exome sequencing as a valuable tool for diagnosing these disorders in resource limited settings. Overall, 46 distinct disorders were identified encompassing 46 genes with 51 single-nucleotide variants and/or indels and two copy-number variant

SUBMITTER: Pande S 

PROVIDER: S-EPMC7616498 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature