由 EDAR 基因内重复引起的表皮发育不全。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
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引用次数: 0

摘要

多汗症外胚层发育不良是一种综合征,主要症状为多毛症、多汗症和牙齿发育不良。发病率估计为每 5 000-10 000 人中有一人患病。10%-15%的患者是由 EDAR 的致病变异引起的,目前已知的大多数致病变异都是错义变异或无义变异。目前已知的致病变异多为错义变异或无义变异。我们为大家介绍一位患有典型的多脂性外胚层发育不良和乳腺增生症的患者,其病因可能是 EDAR 中的一个重复基因。从患者血液中提取的 DNA 进行基因组测序后发现,该重复序列为串联构象,很可能导致 EDAR 蛋白发生改变,产生显性负效应。据我们所知,这是首次报道 EDAR 基因内重复是导致多毛外胚层发育不良的原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR
Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000–10,000 persons. In 10–15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants. We present a patient with classic Hypohidrotic Ectodermal Dysplasia and mammary gland aplasia with a duplication within EDAR as the likely cause. The duplication is de novo in the patient, and genome sequencing of DNA extracted from blood has revealed that the duplication is in tandem conformation, most likely entailing an altered EDAR protein with a dominant negative effect. This is to our knowledge the first report of an intragenic duplication in EDAR as causal for Hypohidrotic Ectodermal Dysplasia.
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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