{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T04:21:35Z","timestamp":1784953295472,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,6,25]],"date-time":"2004-06-25T00:00:00Z","timestamp":1088121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:p>Epidermolysis bullosa simplex (EBS) is an autosomal\u2010dominant inherited blistering skin disease characterized by intraepidermal blistering due to mechanical stress\u2010induced degeneration of basal keratinocytes. EBS is caused by mutations in either keratin 5 or keratin 14, the major keratins expressed in the basal layer of the epidermis. We experienced a unique EBS\u2010affected family. The proband had a heterozygous 1649delG mutation in the keratin 5 gene and had been reported as a case of <jats:italic>de novo<\/jats:italic> mutation, because the mutations were not detected in the parents' DNA from blood samples. However, the proband's younger sister was revealed to have the same disease at birth and we found the same mutation in her. We reinvestigated the familial segregation of the 1649delG mutation and it was shown that the mother's DNA from hair bulb and buccal cell samples had the 1649delG mutation heterozygously, but her DNA from blood samples did not. A careful check on the mother's history disclosed that she had migratory circinate pigmentation in her skin in childhood, which means maternal somatic and germline mosaicism. The demonstration of somatic and gonadal mosaicism in the keratin 5 gene is important for accurate genetic counselling of families with sporadic cases of EBS.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00292.x","type":"journal-article","created":{"date-parts":[[2004,8,20]],"date-time":"2004-08-20T15:58:22Z","timestamp":1093017502000},"page":"236-238","source":"Crossref","is-referenced-by-count":27,"title":["Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case"],"prefix":"10.1111","volume":"66","author":[{"given":"M","family":"Nagao\u2010Watanabe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Fukao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Matsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Kawamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Kasahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Nagai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Ichiki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Kitajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,25]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"1225","volume-title":"Emery and Rimon's principles and practice of medical genetics","author":"Gedde\u2010Dahl T","year":"1996"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.1996.tb00133.x"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00495.x"},{"key":"e_1_2_5_5_2","first-page":"591","article-title":"Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1AI)","volume":"46","author":"Cohn DH","year":"1990","journal-title":"Am J Hum Genet"},{"issue":"1","key":"e_1_2_5_6_2","first-page":"62","article-title":"Parental somatic and germ\u2010line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers\u2010Danlos syndrome type IV in the heterozygous offspring","volume":"53","author":"Milewicz DM","year":"1993","journal-title":"Am J Hum Genet"},{"issue":"4","key":"e_1_2_5_7_2","first-page":"818","article-title":"Parental somatic and germ\u2010line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts","volume":"60","author":"Putnam EA","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12424.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00292.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00292.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T17:32:19Z","timestamp":1697218339000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00292.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,25]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,9]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00292.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00292.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,25]]}}}