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References

These sources were used to develop the Genetics Home Reference gene summary on the NSD1 gene.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet. 2004 Apr;74(4):715-20. Epub 2004 Mar 1. PubMed citation
Cerveira N, Correia C, Dória S, Bizarro S, Rocha P, Gomes P, Torres L, Norton L, Borges BS, Castedo S, Teixeira MR. Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia. Leukemia. 2003 Nov;17(11):2244-7. PubMed citation
Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003 Jan;72(1):132-43. Epub 2002 Dec 2. PubMed citation
Entrez Gene
Faravelli F. NSD1 mutations in Sotos syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):24-31. Review. PubMed citation
Gene Review: Sotos Syndrome
Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood. 2001 Aug 15;98(4):1264-7. PubMed citation
Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002 Apr;30(4):365-6. Epub 2002 Mar 18. PubMed citation
Niikawa N. Molecular basis of Sotos syndrome. Horm Res. 2004;62 Suppl 3:60-5. Review. PubMed citation
Opitz JM, Weaver DW, Reynolds JF Jr. The syndromes of Sotos and Weaver: reports and review. Am J Med Genet. 1998 Oct 2;79(4):294-304. Review. PubMed citation
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204. Epub 2005 Jun 7. PubMed citation
Tatton-Brown K, Rahman N. The NSD1 and EZH2 Overgrowth Genes, Similarities and Differences. Am J Med Genet C Semin Med Genet. 2013 May;163(2):86-91. doi: 10.1002/ajmg.c.31359. Epub 2013 Apr 16. PubMed citation


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