[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):367-9. doi: 10.3760/cma.j.issn.1003-9406.2015.03.014.
[Article in Chinese]

Abstract

Objective: To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.

Methods: Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.

Results: A frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.

Conclusion: The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Adult
  • Base Sequence
  • Child
  • China
  • DNA Mutational Analysis
  • Exons
  • Female
  • Frameshift Mutation*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / enzymology
  • Pigmentation Disorders / genetics
  • Point Mutation
  • RNA-Binding Proteins / genetics*

Substances

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

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1