Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers

PLoS One. 2013 Apr 23;8(4):e62203. doi: 10.1371/journal.pone.0062203. Print 2013.

Abstract

Introduction: Hypodontia, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency. Heterozygous female carriers tend to have mild to moderate XLHED phenotype, even though 30% of them present no obvious symptom.

Methods: A large Chinese XLHED family was reported and the entire coding region and exon-intron boundaries of EDA gene were sequenced. To elucidate the mechanism for carriers' tempered phenotype, we analyzed the methylation level on four sites of the promoter of EDA by the pyrosequencing system.

Results: A known frameshift mutation (c.573-574 insT) was found in this pedigree. Combined with the pedigrees we reported before, 120 samples comprised of 23 carrier females from 11 families and 97 healthy females were analyzed for the methylation state of EDA promoter. Within 95% confidence interval (CI), 18 (78.26%) carriers were hypermethylated at these 4 sites.

Conclusion: Chinese XLHED carriers often have a hypermethylated EDA promoter.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Base Sequence
  • China
  • DNA Methylation*
  • Ectodermal Dysplasia 1, Anhidrotic / diagnosis
  • Ectodermal Dysplasia 1, Anhidrotic / genetics*
  • Ectodysplasins / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Promoter Regions, Genetic*

Substances

  • EDA protein, human
  • Ectodysplasins

Grants and funding

This work was supported by grants from the National Natural Scientific Foundation of China (30500562, 30772417, 30930099 (Monumental Projects) and 81120108010 (International cooperation and exchange projects)), the Chenguang Plan for Distinguished Youth of Wuhan, China (200850731374), the Open Research Fund Program of Hubei-MOST KLOS & KLOBME (201103), the Foundation for the Author of National Excellent Doctoral Dissertation (2007B69) and the Program for New Century Excellent Talents in University, Ministry of Education, China. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.