De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

ABSTRACT:

Background

High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).

Methods

This study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous AGO1 coding variants, occurring de novo for all those whose transmission could have been verified (26/28).

Results

A total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.

SUBMITTER: Schalk A 

PROVIDER: S-EPMC9241146 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature