De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder.

ABSTRACT: Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A, a lysine demethylase crucial for embryonic development, in 18 individuals with developmental delays and/or intellectual disabilities. The severity ranged from learning disabilities to severe intellectual disability. Other core symptoms included feeding difficulties, growth issues such as intrauterine growth restriction, short stature and microcephaly as well as recurrent facial features like epicanthic folds, upslanted palpebral fissures, thin lips, and low-set ears. Expression of human disease-causing KDM2A variants in a Drosophila melanogaster model led to neural degeneration, m

SUBMITTER: Anderson EN 

PROVIDER: S-EPMC11998838 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature