{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T14:32:09Z","timestamp":1789914729333,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T00:00:00Z","timestamp":1147305600000},"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":[[2006,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in <jats:italic>PHOX2B<\/jats:italic> have been shown to confer an increased risk of NB. To date, mutations predisposing to neural crest tumors have been reported in 20 individuals from 16 families. These families included additional clinical features such as Hirschsprung (HSCR) disease or congenital central hypoventilation syndrome, either in the index case or relatives. The contribution of <jats:italic>PHOX2B<\/jats:italic> mutations to NB cases without additional features is unclear. To address this we sequenced <jats:italic>PHOX2B<\/jats:italic> in constitutional DNA from 86 individuals with non\u2010syndromic NB (4 cases had a family history of NB). We identified two mutations, 600delC, a frameshift mutation in an individual with isolated, unifocal NB and G197D, a missense mutation that was present in a family with multiple individuals with NB but no evidence of autonomic dysfunction. These data demonstrate that <jats:italic>PHOX2B<\/jats:italic> mutations are a rare cause of non\u2010syndromic NB. The mutations we identified are outside the domains typically mutated in <jats:italic>PHOX2B<\/jats:italic> syndromes. This provides further evidence that the underlying <jats:italic>PHOX2B<\/jats:italic> mutational mechanism influences tumor risk and suggests that the position of missense mutations may influence the resulting phenotype. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31278","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T06:15:40Z","timestamp":1147414540000},"page":"1297-1301","source":"Crossref","is-referenced-by-count":44,"title":["PHOX2B analysis in non\u2010syndromic neuroblastoma cases shows novel mutations and genotype\u2013phenotype associations"],"prefix":"10.1002","volume":"140A","author":[{"given":"Carmel","family":"McConville","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Reid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Baskcomb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazneen","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1130"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2005.01.055"},{"key":"e_1_2_6_4_1","first-page":"514","article-title":"Mutation and cancer: Neuroblastoma and pheochromocytoma","volume":"24","author":"Knudson AG","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19860501)57:9<1887::AID-CNCR2820570931>3.0.CO;2-7"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2004.12.052"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/424530"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/20700"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026713"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.10031"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3835(03)00080-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/383253"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/428366"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208157"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20527"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31278","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31278","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:20:39Z","timestamp":1697671239000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31278"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,11]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,6,15]]}},"alternative-id":["10.1002\/ajmg.a.31278"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31278","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,11]]}}}