{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:19:21Z","timestamp":1747181961329,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Periodontal Ehlers\u2013Danlos syndrome (pEDS) is an autosomal\u2010dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth and alveolar bone absorption. It was recently shown that pEDS is caused by a heterozygous missense mutation in <jats:italic>C1R<\/jats:italic> or <jats:italic>C1S<\/jats:italic>, which encode complement 1 proteases. Here, we report a familial case of pEDS with a novel heterozygous missense mutation, c.674G&gt;C (p.R225P), in <jats:italic>C1R<\/jats:italic> (NM_001733.4). The case exhibited pretibial hyperpigmentation and extended periodontitis but neither skin extensibility nor joint hypermobility, suggesting that this mutation will expand the definition of pEDS.<\/jats:p>","DOI":"10.1111\/1346-8138.16372","type":"journal-article","created":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T05:09:15Z","timestamp":1648876155000},"page":"714-718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A familial case of periodontal <scp>Ehlers\u2013Danlos<\/scp> syndrome lacking skin extensibility and joint hypermobility with a missense mutation in <scp><i>C1R<\/i><\/scp>"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0341-3252","authenticated-orcid":false,"given":"Kimiko","family":"Nakajima","sequence":"first","affiliation":[{"name":"Department of Dermatology, Kochi Medical School Kochi University  Kochi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayuko","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Kochi Medical School Kochi University  Kochi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Kochi Medical School, Kochi University  Kochi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Reseasch Institute for Child Health and Development  Tokyo 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School Kochi University  Kochi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9812-0216","authenticated-orcid":false,"given":"Shigetoshi","family":"Sano","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Kochi Medical School Kochi University  Kochi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0902-3586","authenticated-orcid":false,"given":"Akiharu","family":"Kubo","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Related Kobe University Graduate School of Medicine  Kobe Japan"},{"name":"Department of Dermatology Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_5_2_1","DOI":"10.1002\/ajmg.c.31552"},{"doi-asserted-by":"publisher","key":"e_1_2_5_3_1","DOI":"10.1038\/ejhg.2012.132"},{"doi-asserted-by":"publisher","key":"e_1_2_5_4_1","DOI":"10.1002\/ajmg.c.31550"},{"key":"e_1_2_5_5_1","first-page":"85","article-title":"A new variant of Ehlers\u2010Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis","volume":"13","author":"Stewart RE","year":"1977","journal-title":"Birth Defects Orig Artic 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