[Analysis of ADAR gene variant in a Chinese pedigree affected with dyschromatosis symmetrica hereditaria]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Feb 10;39(2):202-204. doi: 10.3760/cma.j.cn511374-20201119-00815.
[Article in Chinese]

Abstract

Objective: To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).

Methods: Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.

Results: The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation, hypo- and hyperpigmentation spots on the back of hands, feet and face. Sanger sequencing confirmed that the proband and his mother have both harbored heterozygous splicing variant c.2762+1G>T in exon 9 of the ADAR gene, which was unreported previously. The same variant was not detected among 100 healthy controls. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).

Conclusion: The c.2762+1G>T variant of the ADAR gene probably underlay the DSH in this pedigree. Above finding has enriched the spectrum of ADAR gene mutations.

MeSH terms

  • Adenosine Deaminase* / genetics
  • China
  • Humans
  • Mutation
  • Pedigree
  • Pigmentation Disorders / congenital
  • RNA-Binding Proteins* / genetics

Substances

  • RNA-Binding Proteins
  • Adenosine Deaminase

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1