Familial gigantism caused by an NSD1 mutation.
until further notice
SourceAmerican Journal of Medical Genetics. Part A, 139, 1, (2005), pp. 40-4
Article / Letter to editor
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American Journal of Medical Genetics. Part A
SubjectIGMD 3: Genomic disorders and inherited multi-system disorders; UMCN 5.1: Genetic defects of metabolism
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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