Causative Gene Analysis of Chinese Hypohidrotic Ectodermal Dysplasia Pedigrees.

Abstract

Abstract: Objective: To analyze genetic and phenotypic characters as well as the causative gene of one Chinese hypohidrotic ectodermal dysplasia (HED) pedigree. Methods: The pedigree was reported through the identified proband. All family members were investigated through clinical examination and pedigree analysis. The whole ORF nucleotide sequence of EDA, EDAR and EDARADD were analyzed by direct sequencing. Results: The proband male patient has characteristic phenotype of HED. There was no mutation in EDA, EDAR and EDARADD gene. Conclusion: The patient showed similar phenotype with the previous report. But this study did not get the causative gene.

Key words: Hypoplastic ectodermal dysplasia , Genealogical investigation , Phenotype , Causative geneMutation

CLC Number:

Q132

LIU Yu, YIN Wei, BIAN Zhuan, et al. Causative Gene Analysis of Chinese Hypohidrotic Ectodermal Dysplasia Pedigrees.[J]. Journal of Oral Science Research, 2015, 31(1): 41-44.

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