[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):64-67. doi: 10.3760/cma.j.cn511374-20201015-00720.
[Article in Chinese]

Abstract

Objective: To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).

Methods: PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.

Results: The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.

Conclusion: The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.

MeSH terms

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

Substances

  • RNA-Binding Proteins
  • Adenosine Deaminase

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1