OBJECTIVETo identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia.

METHODSBlood samples were collected from the affected male proband, his family members and 103 unrelated individuals. Following extraction of genomic DNA, coding sequence of the EDA gene was amplified with PCR, and DNA sequencing was performed to detect potential mutation.

RESULTSA novel missense mutation, c.822G>T (p.W274C), was identified in exon 7 of the EDA gene in the proband, whilst his mother was found to be a heterozygous carrier. The same mutation was also found in 5 other family members including one affected male and four females, but was absent in unaffected males and 103 unrelated individuals.

CONCLUSIONA c.822G>T mutation in exon 7 of the EDA gene probably underlies the disease in this Chinese family.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Ectodermal Dysplasia 1, Anhidrotic ; diagnosis ; genetics ; Ectodysplasins ; genetics ; Exons ; Female ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Young Adult