[Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia].
OBJECTIVE
To detect mutations in the ED1 gene in two Chinese pedigrees and a sporadic case with X-linked hypohidrotic ectodermal dysplasia (XLHED) and provide evidences with the mutation analysis for genetic counseling, prenatal diagnosis and confirmation of carrier status.


METHODS
Peripheral blood samples were obtained from two pedigrees and the sporadic patient, and genomic DNA was extract by salting out method. Polymerase chain reaction (PCR) and direct sequencing were performed to screen mutations in ED1 gene.


RESULTS
Three mutations were identified. In one of the pedigrees, a 1045G > A transition was evidenced in exon 9 that resulted in a change of Ala 349 Thr. In the other pedigrees and the sporadic patient, 467G > A and 466C > T transitions were demonstrated in exon 3 that resulted in change of Arg 156 His and Arg 156 Cys. These mutations were not found in 100 normal individuals.


CONCLUSIONS
These mutations were responsible for the disease in the two families and the sporadic patient. All these mutations had been identified previously.
Fan
Hua-Li
HL
Key Laboratory for Oral Biomedical Engineering of Ministry of Education, School of Stomatology, Wuhan University, Wuhan, China.
Ye
Xiao-Qian
XQ
Shi
Bin
B
Zhang
Yun-Long
YL
Bian
Zhuan
Z
D002648:Child; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
C506018:EDA protein, human; D053331:Ectodysplasins