Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways.

ABSTRACT:

Background

Mutations in the ZMIZ1 gene have been implicated in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA). However, the underlying cellular and physiological mechanisms remain poorly understood.

Methods

Exome sequencing was performed to identify candidate variants. qPCR, Western blot, immunofluorescence, CCK-8, and wound-healing assays were employed to assess gene function in human skeletal muscle cells (HSkMCs). RNA-seq and co-immunoprecipitation coupled with mass spectrometry (Co-IP/MS) were used for transcriptomic and interactome profiling.

Results

Here, we identified a novel de novo missense variant c.910G>C (p.A304P) in ZMIZ1 in a patient with NEDDFSA. The p.A304P variant significantly increased ZMIZ1 mRNA and prote

SUBMITTER: Li S 

PROVIDER: S-EPMC13638472 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature