title: A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.
abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations. We describe the case of a Spanish family in which a novel heterozygous c.733_734insGA mutation at the EDA gene was identified. It was located in exon 5 and consisted of a frame-shift mutation at codon 245, which gave rise to an abnormal protein with a premature stop codon after 35 residues. Genetic analyses in families with XLHED are useful for checking carrier status, but they also provide information for genetic counseling and prenatal diagnosis.
authors.affiliation: Servicio de Dermatología, Hospital Universitario de Salamanca, Salamanca, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Cañueto
authors.forename: M I
authors.initials: MI
authors.lastname: Zafra-Cobo
authors.forename: S
authors.initials: S
authors.lastname: Ciria
authors.forename: P
authors.initials: P
authors.lastname: Unamuno
authors.forename: R
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins