A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

ABSTRACT:

Background

ZNF142 gene is a protein-coding gene encoding Zinc Finger Protein 142. ZNF proteins are a vast group of cellular effectors with a wide range of functions such as signal transduction, transcriptional regulation, meiotic recombination, DNA repair, development, and cell migration. Mutations in the ZNF142 gene are related to neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This study on a family with three affected siblings identified a pathogenic frameshift insertion variant. In addition, we conducted a review of the literature on previously reported ZNF142 gene variants and their clinical manifestations.

Materials and methods

Three affected siblings with severe intellectual developmental disabilities and speech impairments, thei

SUBMITTER: Mir A 

PROVIDER: S-EPMC10724506 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature