Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

被引：63

作者：

Kelsell, DP

Wilgoss, AL

Richard, G

Stevens, HP

Munro, CS

Leigh, IM

机构：

[1] Univ London Queen Mary & Westfield Coll, Ctr Cutaneous Res, St Bartholomews & Royal London Sch Med & Dent, London E1 2AT, England

[2] Thomas Jefferson Univ, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

[3] So Gen Hosp, Dept Dermatol, Glasgow G51 4TF, Lanark, Scotland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2000年 / 8卷 / 02期

关键词：

connexin; gap junction; keratoderma; deafness; mutation; polymorphism; Vohwinkel's syndrome;

D O I：

10.1038/sj.ejhg.5200407

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders. In this study, we have extended our analysis of a small family in which palmoplantar keratoderma and various forms of deafness is segregating. In addition to the previously described sequence variant M34T in GJB2, two other sequence variants were identified: D66H also in GJB2 and R32W in GJB3. As D66H segregated with the skin disease, it is likely to underlie the palmoplantar keratoderma. The other two gap junction variants identified may contribute to the type of hearing impairment and the variable severity of the skin disease in the family.

引用

页码：141 / 144

页数：4

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