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A novel 7‐bp deletion mutation in a Taiwanese family with X‐linked hypohidrotic ectodermal dysplasia
Author(s) -
Lin T.K.,
Huang C.Y.,
Lin M.H.,
Chao S.C.
Publication year - 2004
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2004.01547.x
Subject(s) - hypohidrotic ectodermal dysplasia , hypotrichosis , hypodontia , ectodermal dysplasia , frameshift mutation , medicine , missense mutation , exon , genetics , mutation , gene , dermatology , biology , dentistry
Summary Hypohidrotic ectodermal dysplasia (HED) is found worldwide with an estimated incidence of 1 per 100 000 births. X‐linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is the most common form of the ectodermal dysplasias (ED), a rare group of hereditary diseases characterized by abnormal development of eccrine sweat glands, hair, and teeth. Heterozygous carriers of XLHED often manifest minor or moderate degrees of hypotrichosis, hypodontia, and hypohidrosis. ED1 , the gene for XLHED encodes ectodysplasin A, which is a new member of the tumour necrosis factor family. The majority of mutations in XLHED are missense mutations, but one‐fifth are insertion/deletions. Here we report a novel 7‐bp deletion mutation (nt1242–1248) in exon 9 of the ED1 gene that results in a frameshift and premature stop codon (PTC + 38 amino acids). Mutation analysis in families with XLHED allows for genetic counselling, prenatal diagnosis and confirmation of carrier status.