Methylation State of the EDA Gene Promoter in Chinese X-linked Hypohidrotic Ectodermal Dysplasia Carriers

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2013 Apr 30

PMID 23626789

Citations 6

Authors

Wei Yin

Xiaoqian Ye

Huali Fan

Zhuan Bian

Affiliations

Soon will be listed here.

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.

Citing Articles

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