{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T09:20:31Z","timestamp":1774084831931,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,12,26]],"date-time":"2002-12-26T00:00:00Z","timestamp":1040860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) patients are susceptible to tumor development. In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression. The mother had caf\u00e9\u2010au\u2010lait spots suggesting a familial NF1. Neuroblastoma cells showed <jats:italic>MYCN<\/jats:italic> amplification and chromosome 1p36 deletion, common features associated with tumor progression in this malignancy. The <jats:italic>NF1<\/jats:italic> gene displayed a germline T\u2009\u2192\u2009C transition of intron 14 in both the proband and mother DNA. This mutation, not yet previously described, occurs in a splicing donor site and produces a new mRNA variant observed together with normal <jats:italic>NF1<\/jats:italic> mRNA. Furthermore, the SSCP analysis of the <jats:italic>NF1<\/jats:italic> gene in tumor cells showed a somatic deletion encompassing the intron 26 and 27b of the paternal <jats:italic>NF1<\/jats:italic> allele. Hence, neuroblastoma cells displayed both somatic and germline mutation of the <jats:italic>NF1<\/jats:italic> gene. Our data suggest that, although rare, neuroblastoma in patients with NF1 may display homozygous gene inactivation. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10167","type":"journal-article","created":{"date-parts":[[2003,4,7]],"date-time":"2003-04-07T15:04:44Z","timestamp":1049727884000},"page":"309-313","source":"Crossref","is-referenced-by-count":36,"title":["Homozygous inactivation of <i>NF1<\/i> gene in a patient with familial NF1 and disseminated neuroblastoma"],"prefix":"10.1002","volume":"118A","author":[{"given":"Paola","family":"Origone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Defferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katia","family":"Mazzocco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Crocifissa Lo","family":"Cunsolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno De","family":"Bernardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gian Paolo","family":"Tonini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,12,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y"},{"key":"e_1_2_6_3_1","first-page":"1098","article-title":"Rapid nonradioactive detection by PCR of pHHH202\/RsaI RFLP linked to neurofibromatosis type I","volume":"49","author":"Ainsworth PJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.1083-a"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3107130"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199906243402504"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1993.11.8.1466"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450518"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03965.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201684"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.11.704"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.12.5539"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1985.3.1.117"},{"key":"e_1_2_6_16_1","first-page":"1087","article-title":"Constitutional translocation t(1;17) (p36.31\u2013p36.13; q11.2\u2013q12.1) in a neuroblastoma patient. 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