The Missense Mutation G12D in Connexin30.3 Can Cause Both Erythrokeratodermia Variabilis of Mendes da Costa and Progressive Symmetric Erythrokeratodermia of Gottron

被引：44

作者：

van Steensel, M. A. M. ^{[1
,2
]}

Oranje, A. P. ^{[3
]}

van der Schroeff, J. G. ^{[4
]}

Wagner, A. ^{[5
]}

van Geel, M. ^{[1
,2
]}

机构：

[1] Maastricht Univ, Med Ctr, Dept Dermatol, NL-6202 AZ Maastricht, Netherlands

[2] Maastricht Univ, GROW Res Inst Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands

[3] Erasmus MC, Dept Dermatol, Rotterdam, Netherlands

[4] Bronovo Hosp, Dept Dermatol, The Hague, Netherlands

[5] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 04期

关键词：

erythrokeratodermia variabilis; progressive symmetric erythrokeratoderma; GJB4; connexin30.3; gap junction; haplotyping; GENE; GJB4; SKIN;

D O I：

10.1002/ajmg.a.32744

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Progressive symmetric erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking. We performed mutation analysis and microsatellite haplotyping in two independently referred patients with PSEK and three patients from a previously published family with EKV. All patients had the same mutation in the GJB4 gene causing the amino acid substitution p.Glyl2Asp (G12D). Haplotype analysis showed that all five patients had the same allelic haplotype over 2 Mb covering the disease locus. Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. A single ancestral founder might have introduced EKV in the Netherlands. (C) 2009 Wiley-Liss, Inc.

引用

页码：657 / 661

页数：5