Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

ABSTRACT:

Purpose

The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the clinical features of a novel cohort of affected individuals with variants in ZNF142, a C₂H₂ domain-containing transcription factor.

Methods

Four independent research centers used exome sequencing to elucidate the genetic basis of neurodevelopmental phenotypes in four unrelated families. Following bioinformatic filtering, query of control data sets, and secondary variant confirmation, we aggregated findings using an online data sharing platform. We performed in-depth clinical phenotyping in all affected individuals.

Results

We identified seven affected females in four pedigrees with likely pathogenic variants in ZNF142

SUBMITTER: Khan K 

PROVIDER: S-EPMC6821592 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature