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The Most Common Mutation of KRT9, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Two Large Chinese Pedigrees.
MedLine Citation:
PMID:  22262370     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
 Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant-negative mutations of the Keratin 9 gene (KRT9), and rarely with the Keratin 1 gene (KRT1). To date, a myriad of mutations has been reported with a high frequency of codon 163 mutations within the first exon of KRT9 in different populations. Notably, a distinct phenotypic heterogeneity, digital mutilation, was found recently in a 58-year-old female Japanese EPPK patient with p.R163W. Here, we report the most common mutation, c.C487T (p.R163W) of KRT9, in two large EPPK pedigrees from southeast China. The arginine residue in peptide position 163 remains almost constant in at least 47 intermediate filament proteins ranging from snail to human. A substitution in arginine alters both the charge and shape of the 1A rod domain and disrupts the function of the helix initiation motif of keratins, finally compromising the integrity of filaments and weakening their stability in the epidermis of palms and soles. We summarize the clinical symptoms of EPPK in Chinese and show that knuckle pads are associated with KRT9 mutations. We suggest that the frequency of p.R163W in Chinese EPPK patients (31.03%) is consistent with that in the general population (29.33%), and that codon 163 is truly a hotspot mutational site of KRT9. Anat Rec, 2012. © 2012 Wiley Periodicals, Inc.
Authors:
Wen-Ting Liu; Hai-Ping Ke; Yan Zhao; Xiao-Ling Chen; Jia-Jun Lu; Zheng-Fang Du; Dan Yu; Xian-Ning Zhang
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-20
Journal Detail:
Title:  Anatomical record (Hoboken, N.J. : 2007)     Volume:  -     ISSN:  1932-8494     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101292775     Medline TA:  Anat Rec (Hoboken)     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Biochemistry and Genetics, National Education Base for Basic Medical Sciences, Institute of Cell Biology, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China.
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