[The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):576-8. doi: 10.3760/cma.j.issn.1003-9406.2010.05.022.
[Article in Chinese]

Abstract

Objective: To analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).

Methods: Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls.

Results: A missense mutation of c.3463C>T, which results in p.R1155W in the ADAR1 protein, was found in the 2 patients, but was absent in the 2 healthy members in the family and 50 unrelated individuals.

Conclusion: A missense mutation of c.3463C>T in the ADAR1 gene was detected in the DSH family, which is likely responsible for the pathogenesis of the disease.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Mutation, Missense
  • Pedigree
  • Pigmentation Disorders / congenital
  • Pigmentation Disorders / enzymology
  • Pigmentation Disorders / genetics
  • Point Mutation*
  • RNA-Binding Proteins
  • Young Adult

Substances

  • RNA-Binding Proteins
  • ADARB1 protein, human
  • Adenosine Deaminase

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1