Confirmation of the origin of NISCH syndrome

被引：62

作者：

Feldmeyer, L

Huber, M

Fellmann, F

Beckmann, JS

Frenk, E

Hohl, D ^{[1
]}

机构：

[1] CHU Vaudois, Lab Biol Cuntanee, Serv Dermatol, CH-1011 Lausanne, Switzerland

[2] ETH, Inst Cell Biol, CH-8093 Zurich, Switzerland

[3] Univ Lausanne, CHU Vaudois, Serv Med Genet, Lausanne, Switzerland

来源：

HUMAN MUTATION | 2006年 / 27卷 / 05期

关键词：

NISCH syndrome; claudin-1; CLDN1;

D O I：

10.1002/humu.20333

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene.

引用

页码：408 / 410

页数：3

共 7 条

[1]

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28 [J].