A Novel ZC۴H۲ Gene Variant (c.۱۹۷ T>C) Associated With Wieacker-Wolff Syndrome: A Case Report From North of Iran

Background: The ZC۴H۲ gene is highly expressed during brain development and its expression involves the nervous system, especially during the fetal period. The pathogenic variants in the ZC۴H۲ gene are associated with X-linked intellectual disability (ID). Materials and Methods: DNA analyses on a ۳-year-old boy with mental retardation, muscular atrophy, developmental delay, movement and respiratory problems and joint contracture using whole exome sequencing and confirmatory Sanger sequencing method revealed a novel pathogenic variant (c. ۱۹۷ T>C) in the ZC۴H۲ gene. Results: This variant affects the nervous system’s development, leading to a better understanding of ZC۴H۲ function. Conclusion: Genotype/phenotype correlation analysis of new cases with pathogenic variants on the ZC۴H۲ gene could be informative for a better understanding of the ZC۴H۲ function in humans.

کلیدواژه ها:

ZC۴H۲ gene ، Pathogenic variant ، Wieacker-Wolff syndrome