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Novel founder mutation in French-Canadian families with Naxos disease.

作者信息

Marino T Cruz, Maranda B, Leblanc J, Pratte A, Barabas M, Dupéré A, Lévesque S

机构信息

Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, Canada.

Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Quebec, Canada.

出版信息

Clin Genet. 2017 Oct;92(4):451-453. doi: 10.1111/cge.12971. Epub 2017 Feb 22.

DOI:10.1111/cge.12971
PMID:28098346
Abstract
摘要

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Lack of plakoglobin in epidermis leads to keratoderma.表皮中缺乏桥粒斑蛋白会导致角化过度症。
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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.伴有弥漫性非表皮松解性掌跖角化病和羊毛状毛发的致心律失常性右室心肌病（纳克索斯病）基因定位于17q21。
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Normalization of Naxos plakoglobin levels restores cardiac function in mice.纳克索斯病连环蛋白水平正常化可恢复小鼠心脏功能。
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The molecular architecture of the desmosomal outer dense plaque by integrative structural modeling.通过整合结构建模解析桥粒外致密斑的分子结构
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