{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T10:20:21Z","timestamp":1781691621708,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T00:00:00Z","timestamp":1678060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81903210"],"award-info":[{"award-number":["81903210"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (<jats:italic>LSS<\/jats:italic>) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in <jats:italic>LSS<\/jats:italic> were found to be related to diseases such as cataracts, hypotrichosis and palmoplantar keratoderma\u2010congenital alopecia syndrome. The aim of this study was to investigate the contribution of the <jats:italic>LSS<\/jats:italic> mutation to mutilating PPK in a Chinese patient. The clinical and molecular characteristics of the patient were evaluated. A 38\u2010year\u2010old male patient with mutilating PPK was recruited in this study. We identified biallelic variants in the <jats:italic>LSS<\/jats:italic> gene (c.683C\u2009&gt;\u2009T, p.Thr228Ile and c.779G\u2009&gt;\u2009A, p.Arg260His). Immunoblotting revealed that the Arg260His mutant showed a significantly reduced expression level while Thr228Ile showed an expression level similar to that of the wild type. Thin layer chromatography revealed that mutant Thr228Ile retained partial enzymatic activity and mutant Arg260His did not show any catalytic activity. Our findings show the correlation between <jats:italic>LSS<\/jats:italic> mutations and mutilating PPK.<\/jats:p>","DOI":"10.1111\/exd.14774","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T14:42:18Z","timestamp":1677076938000},"page":"699-706","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Biallelic mutations in <scp><i>LSS<\/i><\/scp> in autosomal\u2010recessive mutilating palmoplantar keratoderma"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6761-1584","authenticated-orcid":false,"given":"Shengru","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Dermatology Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital)  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingyuan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Centre for Skin and Immune Diseases  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhao","family":"Zhu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences Peking University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianqiu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital)  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital)  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital)  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital)  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Centre for Skin and Immune Diseases  Beijing China"},{"name":"Dermatology Hospital Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital)  Suzhou China"},{"name":"Department of Dermatology The First Affiliated Hospital of Soochow University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02993"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14650"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.011"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2022.03.023"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.18315"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008628"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/019262301317052440"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0445-x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15679"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0101"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15010"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62438"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15697"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2011.07.046"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2019.08.043"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14788"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2017.11.019"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14774","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/exd.14774","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14774","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T07:28:59Z","timestamp":1697268539000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.14774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,6]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/exd.14774"],"URL":"https:\/\/doi.org\/10.1111\/exd.14774","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,6]]},"assertion":[{"value":"2022-09-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}