{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T03:19:58Z","timestamp":1792207198762,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,3,18]],"date-time":"2011-03-18T00:00:00Z","timestamp":1300406400000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> Mutations in the plectin gene (<jats:italic>PLEC<\/jats:italic>) generally lead to epidermolysis bullosa simplex (EBS) associated with muscular dystrophy. It has been recently demonstrated that <jats:italic>PLEC<\/jats:italic> mutations can also cause a different clinical subtype, EBS associated with pyloric atresia (EBS\u2010PA), which shows early lethality. Prenatal diagnosis (PND) of EBS\u2010PA using mutation screening of <jats:italic>PLEC<\/jats:italic> has not been described.<\/jats:p><jats:p><jats:bold>Objective\u2002<\/jats:bold> This study aimed to perform DNA\u2010based PND for an EBS\u2010PA family.<\/jats:p><jats:p><jats:bold>Materials and methods\u2002<\/jats:bold> The EBS\u2010PA proband was compound\u2010heterozygous for a paternal c.1350G&gt;A splice\u2010site mutation and a maternal p.Q305X nonsense mutation. Genomic DNA was obtained from amniocytes taken from an at\u2010risk fetus of the proband\u2019s family. Direct sequencing and restriction enzyme digestion of polymerase chain reaction products from the genomic DNA were performed.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Mutational analysis showed that the fetus harbored both pathogenic mutations, suggesting that the fetus was a compound\u2010heterozygote and therefore affected with EBS\u2010PA. The skin sample obtained by autopsy from the abortus confirmed the absence of plectin expression at the dermal\u2013epidermal junction.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> This is the first successful DNA\u2010based PND for an EBA\u2010PA family.<\/jats:p>","DOI":"10.1111\/j.1365-4632.2010.04771.x","type":"journal-article","created":{"date-parts":[[2011,3,18]],"date-time":"2011-03-18T08:32:20Z","timestamp":1300437140000},"page":"439-442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["DNA\u2010based prenatal diagnosis of plectin\u2010deficient epidermolysis bullosa simplex associated with pyloric atresia"],"prefix":"10.1111","volume":"50","author":[{"given":"Hideki","family":"Nakamura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Natsuga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wataru","family":"Nishie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"McMillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,3,18]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1603"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.619"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.143"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2006.01.005"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09701.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60005-0"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23564.x"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700707"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.004"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(99)70252-5"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21189"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2005.00324.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.14.1724"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-450"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4724"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e03-09-0697"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-4632.2010.04771.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-4632.2010.04771.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T09:43:38Z","timestamp":1697363018000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-4632.2010.04771.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,18]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["10.1111\/j.1365-4632.2010.04771.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-4632.2010.04771.x","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,3,18]]},"assertion":[{"value":"2011-03-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}