[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia]

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Apr;29(2):201-4.
[Article in Chinese]

Abstract

Objective: To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia

Methods: Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.

Results: Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.

Conclusion: The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.

MeSH terms

  • Asian People
  • Ectodermal Dysplasia 1, Anhidrotic / genetics*
  • Ectodysplasins / genetics*
  • Genetic Association Studies
  • Humans
  • Mutation
  • Pedigree

Substances

  • EDA protein, human
  • Ectodysplasins