{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:10:32Z","timestamp":1773731432044,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,3]],"date-time":"2018-03-03T00:00:00Z","timestamp":1520035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dystrophic epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>), pretibial, a rare subtype of epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>), is characterized by recurrent blisters and erosions predominantly on the pretibial region. We report the case of a 60\u2010year\u2010old Japanese woman with persistent blistering eruptions and scar formation on the pretibial region and elbows. Mutational analysis revealed a previously reported c.5797C&gt;T mutation in exon 70 (p.R1933X) and a novel c.6348+1G&gt;A mutation in intron 76 of <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic>. Reverse transcription polymerase chain reaction revealed that the c.6348+1G&gt;A mutation resulted in the skipping of exon 76 (69 bp) and the retention of intron 76 (75 bp), and both transcripts were in\u2010frame. From these results, we diagnosed the patient as having recessive <jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>, pretibial. A review of previously reported mutations in <jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>, pretibial, revealed that one\u2010third of <jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>, pretibial, cases showed a recessive inheritance pattern, and no case had a combination of premature termination codon (<jats:styled-content style=\"fixed-case\">PTC<\/jats:styled-content>)\/<jats:styled-content style=\"fixed-case\">PTC<\/jats:styled-content> mutations. The <jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>, pretibial, case described herein is the first reported case of a compound heterozygote with <jats:styled-content style=\"fixed-case\">PTC<\/jats:styled-content>\/in\u2010frame mutations. Although no special characteristic features of the mutations were identified, a high diversity of <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> mutations was shown even in <jats:styled-content style=\"fixed-case\">DEB<\/jats:styled-content>, pretibial.<\/jats:p>","DOI":"10.1111\/1346-8138.14271","type":"journal-article","created":{"date-parts":[[2018,3,3]],"date-time":"2018-03-03T06:16:40Z","timestamp":1520057800000},"page":"742-745","source":"Crossref","is-referenced-by-count":5,"title":["Splice site mutation in <i><scp>COL<\/scp>7A1<\/i> resulting in aberrant in\u2010frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6094-3367","authenticated-orcid":false,"given":"Takuji","family":"Masunaga","sequence":"first","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Research Laboratories KOS\u00c9 Corporation Tokyo 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":"Department of Dermatology Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ishiko","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Department of Dermatology School of Medicine Faculty of Medicine Toho University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,3,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12072"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12648"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.199426"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.143"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700219"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09713.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/515495"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.02.003"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13385"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302029"},{"key":"e_1_2_6_13_1","first-page":"983","article-title":"Glycine\u2010to\u2010valine missense mutation in the collagen VII gene of a patient with pretibial dystrophic epidermolysis bullosa","volume":"114","author":"Matsutani Y","year":"2004","journal-title":"Jpn J Dermatol"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.01.006"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14370"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15342"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.14271","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T18:42:25Z","timestamp":1695494545000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,3]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1111\/1346-8138.14271"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14271","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,3]]}}}