{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:52:50Z","timestamp":1792151570666,"version":"4.4.0"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,10,4]],"date-time":"2002-10-04T00:00:00Z","timestamp":1033689600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2002,10]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> We studied a single patient with the lethal (Herlitz) type of junctional epidermolysis bullosa (H\u2010JEB). Screening for mutations in the LAMB3 gene in the patient revealed the previously described hotspot mutation R635X and a novel one basepair deletion in exon 10. The single basepair deletion 1094delA could be detected in the clinically unaffected mother, while the nonsense mutation R635X could not be found in the peripheral blood DNA of either parent. After excluding non\u2010paternity by microsatellite analysis using random markers on chromosomes 3, 8 and 18, we determined that the mutation R635X in the proband was most likely the result of a <jats:italic>de novo<\/jats:italic> event or alternatively, germline mosaicism. The parents requested prenatal diagnosis for a second pregnancy, and while the maternal mutation 1094delA could not be detected in DNA from the fetus, unexpectedly, the mutation R635X was present in the chorionic villus DNA. These findings were most consistent with paternal germline mosaicism for the recessive mutation R635X. The results have had a significant impact on the genetic counseling in this family. To our knowledge, this study represents the first documented case of germline mosaicism in junctional epidermolysis bullosa, and serves as a reminder that germline mosaicism should be considered in cases in which a \u2018new\u2019 mutation is found in the offspring of a clinically and\/or genetically unaffected parent.<\/jats:p>","DOI":"10.1034\/j.1600-0625.2002.110511.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T20:28:09Z","timestamp":1047414489000},"page":"468-470","source":"Crossref","is-referenced-by-count":19,"title":["Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa"],"prefix":"10.1111","volume":"11","author":[{"given":"Peter B.","family":"Cserhalmi\u2010Friedman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwame","family":"Anyane\u2010Yeboa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Christiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,4]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.1996.tb00086.x"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.231"},{"key":"e_1_2_3_4_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2001.00797.x"},{"key":"e_1_2_3_5_2","first-page":"1044","article-title":"Molecular characterization of the breakpoints of a 12\u2010kb deletion in the NF1 gene in a family showing germ\u2010line mosaicism","volume":"57","author":"Lazaro C","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_3_6_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 (COL1A1)","volume":"46","author":"Cohn D H","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_3_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000472168"},{"key":"e_1_2_3_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209484"},{"key":"e_1_2_3_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01558.x"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0625.2002.110511.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0625.2002.110511.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1600-0625.2002.110511.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T14:28:37Z","timestamp":1697552917000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1600-0625.2002.110511.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["10.1034\/j.1600-0625.2002.110511.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1600-0625.2002.110511.x","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}