{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:40:36Z","timestamp":1759938036886,"version":"build-2065373602"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,1,20]],"date-time":"2012-01-20T00:00:00Z","timestamp":1327017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Anatomical Record"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\u2003Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant\u2010negative mutations of the Keratin 9 gene (<jats:italic>KRT9<\/jats:italic>), and rarely with the Keratin 1 gene (<jats:italic>KRT1<\/jats:italic>). To date, a myriad of mutations has been reported with a high frequency of codon 163 mutations within the first exon of <jats:italic>KRT9<\/jats:italic> in different populations. Notably, a distinct phenotypic heterogeneity, digital mutilation, was found recently in a 58\u2010year\u2010old female Japanese EPPK patient with p.R163W. Here, we report the most common mutation, c.C487T (p.R163W) of <jats:italic>KRT9<\/jats:italic>, 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 <jats:italic>KRT9<\/jats:italic> 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. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ar.22409","type":"journal-article","created":{"date-parts":[[2012,1,20]],"date-time":"2012-01-20T04:26:06Z","timestamp":1327033566000},"page":"604-609","source":"Crossref","is-referenced-by-count":5,"title":["The Most Common Mutation of <i>KRT9<\/i>, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Two Large Chinese Pedigrees"],"prefix":"10.1002","volume":"295","author":[{"given":"Wen\u2010Ting","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai\u2010Ping","family":"Ke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010Ling","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia\u2010Jun","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng\u2010Fang","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xian\u2010Ning","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2010.12.019"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2315"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2006.09.005"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2008.0575"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278187"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1684\/ejd.2011.1458","article-title":"A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly","volume":"21","author":"Du ZF","year":"2011","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_8_1","first-page":"387","article-title":"Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma","volume":"18","author":"Feng W","year":"2008","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2007.11.003"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0007-0963.2004.05865.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.21233"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2007.02384.x"},{"key":"e_1_2_5_13_1","first-page":"121","article-title":"Mutation analysis of KRT9 gene in a family with epidermolytic palmoplantar 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