一名土耳其儿童中与外胚层发育不良并指综合征相关基因的新型错义变异
A Novel Missense Variant in the Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
作者信息
Dardour Leila, Cosyns Katrien, Devriendt Koenraad
机构信息
Center for Human Genetics, University of Leuven (KU) and University Hospital Leuven (UZ), Leuven, Belgium.
Department of Pediatrics, Regionaal Ziekenhuis, Tienen, Belgium.
出版信息
Mol Syndromol. 2017 Dec;9(1):22-24. doi: 10.1159/000479359. Epub 2017 Aug 12.
Abstract
Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in coding for nectin-4. Five different mutations in the gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.
摘要
外胚层发育不良并指综合征是一种罕见的常染色体隐性先天性疾病，由编码nectin - 4的基因突变引起。该基因已报道有五种不同的突变，包括3种纯合错义突变。在此，我们报告了一个来自土耳其近亲家庭的未报道过的错义变异（c.247C>T，p.His83Tyr）。
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本文引用的文献
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2
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.导致外胚层发育不良并伴有并指畸形的Nectin-4突变扰乱了Rac1信号通路和黏附连接形成的动力学。
J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27.
3
Nectinopathies: an emerging group of ectodermal dysplasia syndromes.Nectin 病：一类新兴的外胚层发育不良综合征。
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4
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5
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