A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma

J. H. Lin, M. H. Lin, M. H. Yang, Sheau-Chiou Chao

研究成果: Article

12 引文 (Scopus)

摘要

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (KRT9). We report a Taiwanese family with EPPK with a novel mutation with an A → C transition at the first nucleotide of codon 160 in KRT9. The mutation is predicted to result in an asparagine to histidine substitution (N160H) at the beginning of the α-helical 1A domain of keratin 9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.

原文English
頁(從 - 到)308-310
頁數3
期刊Clinical and Experimental Dermatology
29
發行號3
DOIs
出版狀態Published - 2004 五月 1

指紋

Keratoderma, Palmoplantar, Epidermolytic
Keratin-9
Mutation
Genes
Codon
Asparagine
Keratins
Keratinocytes
Histidine
Nucleotides

All Science Journal Classification (ASJC) codes

  • Dermatology

引用此文

@article{014f5e6c8a1244ad95718c5536d14342,
title = "A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma",
abstract = "Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (KRT9). We report a Taiwanese family with EPPK with a novel mutation with an A → C transition at the first nucleotide of codon 160 in KRT9. The mutation is predicted to result in an asparagine to histidine substitution (N160H) at the beginning of the α-helical 1A domain of keratin 9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.",
author = "Lin, {J. H.} and Lin, {M. H.} and Yang, {M. H.} and Sheau-Chiou Chao",
year = "2004",
month = "5",
day = "1",
doi = "10.1111/j.1365-2230.2004.01497.x",
language = "English",
volume = "29",
pages = "308--310",
journal = "Clinical and Experimental Dermatology",
issn = "0307-6938",
publisher = "Wiley-Blackwell",
number = "3",

}

TY - JOUR

T1 - A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma

AU - Lin, J. H.

AU - Lin, M. H.

AU - Yang, M. H.

AU - Chao, Sheau-Chiou

PY - 2004/5/1

Y1 - 2004/5/1

N2 - Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (KRT9). We report a Taiwanese family with EPPK with a novel mutation with an A → C transition at the first nucleotide of codon 160 in KRT9. The mutation is predicted to result in an asparagine to histidine substitution (N160H) at the beginning of the α-helical 1A domain of keratin 9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.

AB - Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (KRT9). We report a Taiwanese family with EPPK with a novel mutation with an A → C transition at the first nucleotide of codon 160 in KRT9. The mutation is predicted to result in an asparagine to histidine substitution (N160H) at the beginning of the α-helical 1A domain of keratin 9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.

UR - http://www.scopus.com/inward/record.url?scp=2442707890&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2442707890&partnerID=8YFLogxK

U2 - 10.1111/j.1365-2230.2004.01497.x

DO - 10.1111/j.1365-2230.2004.01497.x

M3 - Article

C2 - 15115518

AN - SCOPUS:2442707890

VL - 29

SP - 308

EP - 310

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

SN - 0307-6938

IS - 3

ER -