Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5,000-10,000 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 af 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.

Lise Graversen

Mette Sommerlund

Casper Kruse

Hans Gjørup

Pernille Axel Gregersen

Uffe Birk Jensen

Jenny Blechingberg

European Journal of Medical Genetics

欧洲医学遗传学杂志 (EJMG) 是一份同行评审期刊，以英文发表关于人类和医学遗传学以及实验模型遗传学的各个方面的文章。原创临床和实验研究文章、简短的临床报告、评论文章和欢迎就以下主题给编辑写信：• 畸形学和综合征描述• 遗传性疾病的分子遗传学和分子细胞遗传学• 基因组学和下一代测序技术的临床应用• 综合征癌症遗传学• 行为遗传学• 社区遗传学• 胎儿病理学和产前诊断• 遗传咨询。

The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles on various aspects of human and medical genetics, as well as experimental model genetics. We welcome original clinical and experimental research articles, brief clinical reports, and review articles. The journal particularly focuses on the following topics: • Morphology and syndrome descriptions • Molecular genetics and molecular cytogenetics of hereditary diseases • Clinical applications of genomics and next-generation sequencing technologies • Genetic aspects of syndromic cancers • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.

《欧洲医学遗传学杂志》(European Journal of Medical Genetics) 是一本经过同行评审的期刊，主要发表关于人类医学遗传学及实验模型遗传学各个方面的研究文章。我们欢迎原创的临床和实验研究、简短的临床报告以及评论文章。期刊特别关注以下主题：• 畸形学与综合征描述 • 遗传性疾病的分子遗传学与分子细胞遗传学 • 基因组学及下一代测序技术的临床应用 • 综合征癌症遗传学 • 行为遗传学 • 社区遗传学 • 胎儿病理学与产前诊断 • 遗传咨询。

Category	Quartile
医学	4
医学, 遗传学	4

Hypohidrotic Ectodermal Dysplasia caused by an intragenic duplication in EDAR

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Journal Info

Category	Quartile
GENETICS & HEREDITY	3