A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
BACKGROUND
hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder affecting the skin and its derivatives. It is characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. To date, all mutations have been involving in three codons: G11R, A88V and V37E in the connexin 30 (Cx30) gene have been shown to cause this disorder.


OBJECTIVE
in order to analyze the mutations of the Cx30 gene in Chinese Han patients with HED.


METHODS
we collected a large Chinese HED family consisting of a total of 81 individuals including 28 HED patients (14 males and 14 females). The whole coding region of Cx30 was amplified by polymerase chain reaction and products analyzed by direct sequencing, then further confirmed at the mRNA level by RT-PCR.


RESULTS
we detected a transition, 31(G-->A), leading to a missense mutation (G11R) in genomic DNAs of 18 patients, and the point mutation was not found in 16 normal individuals in this HED family and in 188 unrelated, population-match control individuals. The transcription of mutated allele was confirmed by RT-PCR of Cx30 mRNA.


CONCLUSIONS
our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED.
Zhang
Xue-Jun
XJ
Institute of Dermatology, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, P.R. China. ayzxj@mail.hf.ah.cn
Chen
Jian-Jun
JJ
Yang
Sen
S
Cui
Yong
Y
Xiong
Xiao-Yan
XY
He
Ping-Ping
PP
Dong
Pu-Lin
PL
Xu
Shi-Jie
SJ
Li
Yue-Bin
YB
Zhou
Qing
Q
Wang
Yuan
Y
Huang
Wei
W
D000328:Adult; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; D012333:RNA, Messenger; D001120:Arginine; D005998:Glycine