Work

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

Year: 2025

Type: article

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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.70747