title: Familial gigantism caused by an NSD1 mutation.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands.
authors.forename: Mieke M
authors.initials: MM
authors.lastname: van Haelst
authors.forename: Jeannette J M
authors.initials: JJ
authors.lastname: Hoogeboom
authors.forename: Genevieve
authors.initials: G
authors.lastname: Baujat
authors.forename: Hennie T
authors.initials: HT
authors.lastname: Brüggenwirth
authors.forename: Ingrid
authors.initials: I
authors.lastname: Van de Laar
authors.forename: Kim
authors.initials: K
authors.lastname: Coleman
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
authors.forename: Martinus F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: Sten L S
authors.initials: SL
authors.lastname: Drop
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005877:Gigantism / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human