{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:34:17Z","timestamp":1747186457305,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,11,10]],"date-time":"2019-11-10T00:00:00Z","timestamp":1573344000000},"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":["J of Cosmetic Dermatology"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pretibial dystrophic epidermolysis bullosa (DEB\u2010Pt) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering and scar formation. The pathogenesis of the disease is mainly due to the mutation of <jats:italic>COL7A1<\/jats:italic> gene encoding type VII collagen fibers, resulting in the destruction of the anchoring structure of the epidermis and dermis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>The purpose of this study was to discover the major mutations in DEB\u2010Pt by studying this family and reviewing the literature on DEB\u2010Pt.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients\/Methods<\/jats:title><jats:p>We examined the patients by clinical manifestations and histopathology, extracted DNA from blood samples from 7 individuals in the family via FlexiGene DNA Kit, and then sequenced the samples using whole\u2010exon sequencing (WES).<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>Characteristic clinical manifestations such as blisters and scars were found in the patients. Genetic analysis revealed a missense mutation in exon 87(c.6860G&gt;A) of <jats:italic>COL7A1<\/jats:italic> gene, which has never been reported before.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The discovery of the new mutation extends the COL7A1 mutation database. We also reviewed all the mutation in DEB\u2010Pt from relevant literature at home and abroad. This will facilitate the molecular diagnosis, treatment, and prognosis of DEB\u2010Pt.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jocd.13172","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T05:48:54Z","timestamp":1573451334000},"page":"1508-1512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel mutation of COL7A1 in a Chinese DEB\u2010Pt family and review of the literature"],"prefix":"10.1111","volume":"19","author":[{"given":"Ling","family":"Jin","sequence":"first","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-6367","authenticated-orcid":false,"given":"Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6513-7097","authenticated-orcid":false,"given":"Cong","family":"Xin","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Tang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuejun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Oncology The Second Affiliated Hospital Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sen","family":"Yang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(98)00007-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12365129"},{"issue":"4","key":"e_1_2_7_4_1","first-page":"797","article-title":"Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa","volume":"49","author":"Ryyn\u00e4nen M","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115916"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2008.00723.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12471830"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1239"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21651"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2008.03983.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12325.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20647"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-003-0444-1"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.199426"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12072"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13385"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.143"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1579"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.19606.x"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00326.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.02.003"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0365-05962012000100017"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2010.01008.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09713.x"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.03155.x"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12648"}],"container-title":["Journal of Cosmetic Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jocd.13172","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jocd.13172","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jocd.13172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T12:34:52Z","timestamp":1693744492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jocd.13172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,10]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1111\/jocd.13172"],"URL":"https:\/\/doi.org\/10.1111\/jocd.13172","archive":["Portico"],"relation":{},"ISSN":["1473-2130","1473-2165"],"issn-type":[{"type":"print","value":"1473-2130"},{"type":"electronic","value":"1473-2165"}],"subject":[],"published":{"date-parts":[[2019,11,10]]},"assertion":[{"value":"2019-06-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}