Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

ABSTRACT:

Background

Microcephaly, characterized by an abnormally small head size, frequently co-occurs with neurodevelopmental disorders (NDDs). While the genetic basis of NDDs has been widely investigated, the contribution of rare coding variants to microcephaly remains poorly understood.

Methods

We investigated the relationships between head circumference and rare coding variants in 418 individuals with microcephaly, analyzing data from 1050 exomes (312 trios and 106 proband-only samples). Participants were classified into primary microcephaly (PM) and secondary microcephaly (SM) groups, and their clinical and genetic characteristics were systematically assessed. The functional impact of high-priority candidate genes, RTF1 and ASAP2, was further validated using neural progenitor ce

SUBMITTER: Yoon JG 

PROVIDER: S-EPMC12326769 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature