{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T17:38:37Z","timestamp":1768325917301,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,27]],"date-time":"2013-05-27T00:00:00Z","timestamp":1369612800000},"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":[[2014,4]]},"abstract":"<jats:p>Neurofibromatosis type 1 (NF1) is caused by loss of function mutations of the <jats:italic><jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content><\/jats:italic> gene, which are <jats:italic>de novo<\/jats:italic> in 50% of cases. Although this gene shows one of the highest mutation rates in the human genome, germline mosaicism is very rare in this condition. We describe the molecular analysis of a family in which neurofibromatosis type 1 occurred in two out of four siblings born to unaffected parents. Molecular analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content><\/jats:italic> gene identified in both patients the same splicing mutation c.1392+<jats:styled-content style=\"fixed-case\">1G<\/jats:styled-content>&gt;A, which was absent in parental lymphocytes. Microsatellite analysis showed that the two affected siblings shared the same maternal allele, however a specific PCR\u2010RFLP assay excluded the presence of the <jats:italic><jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content><\/jats:italic> splicing mutation in multiple maternal tissues. Our molecular and clinical findings are consistent with a germline mosaicism for the <jats:italic><jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content><\/jats:italic> splicing mutation. This is the first case of maternal germline mosaicism for a <jats:italic>NF1<\/jats:italic> mutation characterized so far at the molecular level. Our data confirm that germline mosaicism is rare in neurofibromatosis 1, but it has important implications for genetic counseling.<\/jats:p>","DOI":"10.1111\/cge.12177","type":"journal-article","created":{"date-parts":[[2013,4,26]],"date-time":"2013-04-26T17:26:39Z","timestamp":1366997199000},"page":"386-389","source":"Crossref","is-referenced-by-count":18,"title":["Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism"],"prefix":"10.1111","volume":"85","author":[{"given":"E.","family":"Trevisson","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, Department of Woman and Child Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Forzan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Woman and Child Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Woman and Child Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Clementi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Woman and Child Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00208923"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3364"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.11.704"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.11.1433"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.059329"},{"key":"e_1_2_6_8_1","first-page":"575","article-title":"Neurofibromatosis. 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