Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review

TL;DR

A new mutation in the ZNF292 gene is linked to developmental delays and short stature in a young girl.

Contribution

The study identifies a novel frameshift mutation in ZNF292 and expands its associated clinical phenotype.

Findings

A 4-year-old girl with developmental delays and short stature was found to have a novel ZNF292 frameshift mutation.

The mutation is predicted to be pathogenic based on ACMG guidelines.

The findings expand the phenotypic spectrum of ZNF292-related disorders.

Abstract

Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co‐occurring autism spectrum disorder (ASD). In this study, we present a novel clinical phenotype associated with a newly identified variant of ZNF292 and conduct a thorough review of relevant literature. A 4‐year‐old female patient displayed language developmental delays, short stature, and skeletal abnormalities. Trio whole‐exome sequencing revealed a novel de novo heterozygous frameshift variant in exon 8 of the ZNF292 gene, c.5977_5978del, p.Gln1993fs. According to the ACMG guidelines, this variant is expected to be pathogenic. Our research unveils a novel variant in ZNF292‐related disorders and expands the associated phenotypic spectrum. This study highlights the significance of employing next‐generation sequencing for timely patient diagnosis, while further clinical phenotypic and genotypic investigations could improve the understanding of ZNF292‐linked conditions.

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