Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests

被引：32

作者：

Takizawa, Y

Shimizu, H

Rouan, F

Kawai, M

Udono, M

Pulkkinen, L

Nishikawa, T

Uitto, J

机构：

[1] Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA

[2] Thomas Jefferson Univ, Jefferson Med Coll, Dept Mol Pharmacol & Biochem, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA

[3] Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan

[4] Shimoshizu Hosp, Dept Internal Med, Shimoshizu, Japan

[5] Nagasaki Univ, Sch Med, Dept Dermatol, Nagasaki 852, Japan

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1999年 / 112卷 / 01期

关键词：

blistering skin diseases; mutation defection strategies; plectin mutations;

D O I：

10.1046/j.1523-1747.1999.00461.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). In this study, we have examined two Japanese patients with EB-MD using heteroduplex scanning or a protein truncation test for mutation detection analysis. The results revealed that both patients were compound heterozygotes for novel PLEC1 mutations (Q1936X/Q1053X and R2421X/12633ins4), which all caused premature termination of translation of the corresponding polypeptides. These cases, which demonstrate the utility of two complementary mutation detection strategies, add to the repertoire of plectin mutations in EB-MD.

引用

页码：109 / 112

页数：4

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