A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G→A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities. Manifestations in the present family include dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent.

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doi.org/10.1002/ajmg.a.30973, hdl.handle.net/1765/64273
American Journal of Medical Genetics. Part A
Department of Clinical Genetics

van Haelst, M., Hoogeboom, J., Baujat, G., Brüggenwirth, H., van de Laar, I., Coleman, K., … Scambler, P. (2005). Familial gigantism caused by an NSD1 mutation. American Journal of Medical Genetics. Part A, 139 A(1), 40–44. doi:10.1002/ajmg.a.30973