New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

被引：10

作者：

Fong, K. ^{[1
]}

Akdeniz, S. ^{[2
]}

Isi, H. ^{[2
]}

Taskesen, M. ^{[2
]}

McGrath, J. A. ^{[1
]}

Lai-Cheong, J. E. ^{[1
]}

机构：

[1] Kings Coll London, Genet Skin Dis Grp, St Johns Inst Dermatol, London WC2R 2LS, England

[2] Dicle Med Univ, Dept Dermatol & Genet, Diyarbakir, Turkey

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2011年 / 36卷 / 04期

关键词：

PROTEASE INHIBITOR; LEKTI; EXPRESSION; SPECTRUM; GENE;

D O I：

10.1111/j.1365-2230.2010.03976.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

P>Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

引用

页码：412 / 415

页数：4

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