Analysis of whole-genome sequencing data in Liu et al., 2018 demonstrated that a distal enhancer putatively targeting the ZMIZ1 gene harbored recurrent de novo single-nucleotide variants in ASD-affected cases. Carapito et al., 2019 reported 19 individuals with ZMIZ1 variants presenting with a neurodevelopmental syndrome characterized by developmental delay/intellectual disability, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations; behavioral abnormalities, including autism spectrum disorder, were frequently observed in affected individuals.
Molecular Function
This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
