Association of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.

ABSTRACT:

Background

Human genetic studies have linked loss-of-function variants in Zinc Finger MIZ-Type Containing 1 (ZMIZ1) to a spectrum of neurodevelopmental disorders (NDDs), such as intellectual disability (ID), autism spectrum disorders (ASD), and attention-deficit/hyperactivity disorder (ADHD). Recently, multiple studies have reported ZMIZ1 variants in patients with NDDs, in some cases providing detailed phenotypic descriptions of the carriers. However, how ZMIZ1 variants may contribute to the phenotypic variability of carriers and the different phenotypic manifestations of NDDs has not been explored.

Methods

Here, we examine the relationship between ZMIZ1 variants, affected ZMIZ1 protein domains, and phenotypic variability of individuals diagnosed with NDD using de-identified

SUBMITTER: Cormier KE 

PROVIDER: S-EPMC12170594 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature