[DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria]

Beijing Da Xue Xue Bao Yi Xue Ban. 2004 Oct;36(5):466-8.
[Article in Chinese]

Abstract

Objective: To identify the DSRAD gene; mutations in three Chinese families with dyschromatosis symmetrica hereditaria.

Methods: All exons of DSRAD gene were analyzed in each person of these families with PCR-DNA sequencing. DNA samples from 100 unrelated, normally pigmented adult individuals were also included as control.

Results: We identified a missense mutation of C3220T (R1074C) in DSRAD gene in family A, and another missense mutation of G3325T (D1109Y) in DSRAD gene in family B and C. No same mutation was found in unaffected individuals in the families and the controls.

Conclusion: We found two special missense mutations in DSRAD gene in three families of dyschromatosis symmetrica hereditaria. These mutations may impair DSRAD protein function, and as a consequence, cause skin dyschromatosis.

Publication types

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

MeSH terms

  • Adenosine Deaminase / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Pigmentation Disorders / enzymology
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • RNA-Binding Proteins

Substances

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