A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review

Abstract

Background Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic skin condition characterized by pigmented macules on the hands, feet, and sometimes the face. The ADAR1 gene is responsible for this autosomal dominant disorder. Objective This study aimed to analyze a three-generation Chinese family with DSH, identify a novel ADAR1 gene mutation, and conduct a comprehensive literature review of Chinese DSH families to enhance understanding of the genetic basis and clinical manifestations. Methods Clinical reports, mutation analysis, and literature reviews were conducted. A literature search was performed using PubMed. Results A novel heterozygous nonsense mutation, c.763C>T (p.Q255X), in the ADAR1 gene was identified in the proband and five other affected individuals. Literature review findings revealed prevalent mutation sites and clinical data in Chinese DSH families over the past two decades. Limitations The number of databases searched was limited, and the treatment outcomes for patients were not deemed satisfactory. Conclusion This study provides valuable insights into the genetic basis and clinical features of DSH in Chinese families, shedding light on prevalent mutation sites and clinical data. Further research is needed to explore the relationship between gene mutations and clinical phenotypes and advance therapeutic interventions for DSH.