{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T03:11:18Z","timestamp":1768273878136,"version":"3.49.0"},"reference-count":27,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T00:00:00Z","timestamp":1568592000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81100187"],"award-info":[{"award-number":["81100187"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolytic palmoplantar keratoderma (EPPK) is characterized by hyperkeratotic lesions on palms and soles. The disorder is caused by mutations of keratin 9 (<jats:italic>KRT9<\/jats:italic>) or <jats:italic>KRT1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Epidermolytic palmoplantar keratoderma was diagnosed by physical examination and histopathological analysis in a five\u2010generation Chinese family. Mutation was screened by Sanger sequencing. The palmar expression of multiple cytokeratins were analyzed by tape\u2010stripping and Real\u2010time PCR. Literatures of EPPK with additional symptoms were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Affected family members showed diffuse palmoplantar keratosis, with knuckle pads, friction\u2010related lesions and a novel additional symptom of palmar constriction. A heterozygous mutation of c.T491C (p.L164P) of <jats:italic>KRT9<\/jats:italic> was found within the helix initiation motif. The hydrophobic effect was decreased and the initiation of coiled\u2010coil conformation was delayed. The <jats:italic>KRT16<\/jats:italic>\/<jats:italic>KRT6<\/jats:italic> expression were significantly increased in the patients, especially on the right, indicating activation of stress\u2010response and wound\u2010healing cytokeratins. There were also increased <jats:italic>KRT9<\/jats:italic>\/<jats:italic>KRT2<\/jats:italic>, unchanged <jats:italic>KRT10<\/jats:italic>\/<jats:italic>KRT1<\/jats:italic>, and undetectable <jats:italic>KRT14<\/jats:italic>\/<jats:italic>KRT5<\/jats:italic> expression. The genetic and phenotypic heterogeneity of EPPK with additional symptoms were summarized by literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The p.L164P mutation of <jats:italic>KRT9<\/jats:italic> caused EPPK with a novel symptom of palmar constriction. The expression of multiple cytokeratins was altered in EPPK patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.977","type":"journal-article","created":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T23:40:13Z","timestamp":1568677213000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<i>Keratin 9<\/i> L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8653-0907","authenticated-orcid":false,"given":"Xiaoliang","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuang","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"He","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2315"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2006.09.005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2008.0575"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2011.1458"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.356"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2009.83"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.13041234.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf00201564"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-002-0328-9"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(82)90515-0"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-0436.1993.tb00033.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2007.02384.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00645"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12352"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12027"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20090"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14087"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jidsp.5640199"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12666011"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-174"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12666018"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-106"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10317.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2009.04295.x"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00626.x"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22729.x"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2009.0631"}],"container-title":["Molecular Genetics &amp; 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