title: [Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].
abstract: OBJECTIVE
  To identify potential mutations of ED1 gene in six pedigrees with hypohidrotic ectodermal dysplasia (HED), and to provide genetic counseling and prenatal diagnosis.
  
  
  METHODS
  Eight coding exons of ED1 gene of patients with clinically diagnosed HED and their relatives were amplified by polymerase chain reaction (PCR). The products were further analyzed by direct sequencing.
  
  
  RESULTS
  Various mutations of ED1 gene were detected, which included R153C, A349T, G299S, A349T and X392Q. Heterozygous double peaks at the same position were found in female carriers. Deletion of exon 9 was detected in one pedigree. R153C, X392Q and deletion of exon 9 were first identified in ethnic Han Chinese.
  
  
  CONCLUSIONS
  The identified mutations of ED1 gene may be responsible for the disease. Genetic counseling, prenatal diagnosis and carrier screening are now available for these families.
authors.affiliation: Center of Prenatal Diagnosis, Zhengzhou University, Zhengzhou, Henan, People's Republic of China.
authors.forename: Qing-hua
authors.initials: QH
authors.lastname: Wu
authors.forename: Hui-rong
authors.initials: HR
authors.lastname: Shi
authors.forename: Bao-cui
authors.initials: BC
authors.lastname: Liu
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Zhao
authors.forename: Miao
authors.initials: M
authors.lastname: Jiang
authors.forename: Ning
authors.initials: N
authors.lastname: Lu
authors.forename: Xiang-dong
authors.initials: XD
authors.lastname: Kong
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins