<i>RNU4-2</i> monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity.

ABSTRACT: We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for parental consanguinity.Genome sequencing (GS) data from 22 928 individuals in our Biodatabank were queried for rare, monoallelic variants in RNU4-2 From these, 4918 patients presented with NDD/ID. Human Phenotype Ontology (HPO)-encoded clinical information was extracted and analysed using the ontologyX R package.Nearly 50% of the 4918 patients with NDD/ID reported parental consanguinity. Eight relevant heterozygous RNU4-2 variants were identified in 28 patients. n.64_65insT was the most frequently detected variant (20 patients, 71%), while the remaining variants were found in 1 o

SUBMITTER: Bertoli-Avella AM 

PROVIDER: S-EPMC12322396 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature