A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked. However, X-linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin-A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1-bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease-causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED.
Zhang
H
H
Department of Dermatology, Institute of Dermatology, No 1 Hospital, Anhui Medical University, Hefei, China.
Quan
C
C
Sun
L-D
LD
Lv
H-L
HL
Gao
M
M
Zhou
F-S
FS
Xiao
F-L
FL
Fang
Q-Y
QY
Shen
Y-J
YJ
Zhou
L
L
Yang
S
S
Zhang
X-J
XJ
D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult
C506018:EDA protein, human; D053331:Ectodysplasins