[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].
OBJECTIVE
To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia


METHODS
Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.


RESULTS
Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.


CONCLUSIONS
The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.
Zhang
Hui
H
Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Diseases, Ministry of Education and Anhui Province, Hefei 230032, China.
Quan
Cheng
C
Gao
Min
M
Xiao
Feng-Li
FL
Lu
Wen-Sheng
WS
Shen
Yu-Jun
YJ
Zhou
Fu-Sheng
FS
Yang
Sen
S
Zhang
Xue-Jun
XJ
D044466:Asian People; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D010375:Pedigree
C506018:EDA protein, human; D053331:Ectodysplasins