Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

ABSTRACT: Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 varia

SUBMITTER: Christensen MB 

PROVIDER: S-EPMC9546172 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature