Chao Sheau-Chiou, Chung Ching-Hung, Yang Chao-Chun, Yang Mei-Hui, Lee Julia Yu-Yun
Department of Dermatology, National Cheng-Kung University Hospital, Tainan, Taiwan.
J Formos Med Assoc. 2003 Jun;102(6):412-7.
X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is the most common form among the ectodermal dysplasias, 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 involved in XLHED, encodes ectodysplasin A, a new member of the tumor necrosis factor family. The majority of mutations in XLHED are missense mutations, but one-fifth are insertion/deletions. In this report, we describe the mutation analysis of a Taiwanese pedigree with XLHED. A 35-bp deletion in exon 5 of the ED1 gene was found in the 3 affected males and in 5 female carriers. Mutation analysis in families with XLHED allows for genetic counseling, prenatal diagnosis, and confirmation of carrier status.
X连锁隐性少汗型外胚层发育不良（XLHED，OMIM 305100）是外胚层发育不良中最常见的类型，外胚层发育不良是一组罕见的遗传性疾病，其特征是小汗腺、毛发和牙齿发育异常。XLHED的杂合子携带者常表现出轻度或中度的毛发稀少、缺牙和少汗。ED1是与XLHED相关的基因，编码外胚层发育不良蛋白A，它是肿瘤坏死因子家族的新成员。XLHED中的大多数突变是错义突变，但五分之一是插入/缺失突变。在本报告中，我们描述了一个患有XLHED的台湾家系的突变分析。在3名患病男性和5名女性携带者中发现了ED1基因第5外显子的35bp缺失。对XLHED家系进行突变分析有助于进行遗传咨询、产前诊断和携带者状态的确认。
