{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T12:52:56Z","timestamp":1765975976252},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,22]],"date-time":"2013-01-22T00:00:00Z","timestamp":1358812800000},"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":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive facial features, and developmental delay, arises from mutations and deletions of the <jats:italic>NSD1<\/jats:italic> gene at 5q35.3. Sixteen <jats:italic>NSD1<\/jats:italic> intragenic deletions (including one in a mosaic condition) and one partial duplication have been reported in patients with Sotos syndrome. Here, we describe a boy aged 4 years and 10 months that showed facial dysmorphism (including frontal bossing, widely spaced eyes, deeply set eyes, a wide nasal bridge, anteverted nares, and a wide mouth), normal growth, and a psychomotor delay. High\u2010resolution array comparative genomic hybridization (CGH) analysis identified a mosaic heterozygous intragenic <jats:italic>NSD1<\/jats:italic> deletion of 38\u2009kb, which included part of intron 2 and the entire exon 3, and led to <jats:italic>NSD1<\/jats:italic> haploinsufficiency. The deletion somatic mosaicism was subsequently confirmed by fluorescence in situ hybridization (FISH) analysis using fosmid clones. This patient presents the most atypical phenotype thus far associated with <jats:italic>NSD1<\/jats:italic> haploinsufficiency. It is possible that this atypical phenotype may have resulted from the somatic mosaicism of the <jats:italic>NSD1<\/jats:italic> defect. Our study confirms the usefulness of array CGH for increasing the detection rate of <jats:italic>NSD1<\/jats:italic> abnormalities and for diagnosing syndromic patients that do not present an easily recognized phenotype. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35814","type":"journal-article","created":{"date-parts":[[2013,1,22]],"date-time":"2013-01-22T15:51:46Z","timestamp":1358869906000},"page":"611-618","source":"Crossref","is-referenced-by-count":10,"title":["A novel mosaic <i>NSD1<\/i> intragenic deletion in a patient with an atypical phenotype"],"prefix":"10.1002","volume":"161","author":[{"given":"Chiara","family":"Castronovo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Rusconi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Crippa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Giardino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cereda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Palma","family":"Finelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,1,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.571"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000081063"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328349182d"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031930"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.07.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.164"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.51"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34179"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10270"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00750-8"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.11.013"},{"key":"e_1_2_7_15_1","first-page":"157","volume-title":"Human cytogenetics. A practical approach","author":"Lichter P","year":"1992"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2294592"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.285"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-011-0017-6"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20568"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01449-6"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027755"},{"key":"e_1_2_7_22_1","first-page":"1","article-title":"The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene","volume":"52","author":"Tei S","year":"2006","journal-title":"Kobe J Med Sci"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30973"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00393.x"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.06.001"}],"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.35814","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35814","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:12:29Z","timestamp":1697634749000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,22]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/ajmg.a.35814"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35814","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,22]]}}}