[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families].
OBJECTIVE
To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families.


METHODS
Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations.


RESULTS
Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported.


CONCLUSIONS
Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.
Wang
Ying
Y
Department of Prosthodontics, Peking University School of Stomatology, Beijing 100081, China.
Zhao
Hongshan
H
Zhang
Xiaoxia
X
Feng
Hailan
H
D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
C506018:EDA protein, human; D053331:Ectodysplasins