Familial gigantism caused by an NSD1 mutation

Mieke M van Haelst, Jeannette J M Hoogeboom, Genevieve Baujat, Hennie T Brüggenwirth, Ingrid Van de Laar, Kim Coleman, Nazneen Rahman, Martinus F Niermeijer, Sten L S Drop, Peter J Scambler

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)40-4
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Issue number1
Publication statusPublished - 15 Nov 2005


  • Abnormalities, Multiple/genetics
  • Adolescent
  • Child
  • Craniofacial Abnormalities/genetics
  • DNA Mutational Analysis
  • Female
  • Gigantism/genetics
  • Histone Methyltransferases
  • Humans
  • Intracellular Signaling Peptides and Proteins/genetics
  • Male
  • Mutation
  • Nuclear Proteins/genetics
  • Pedigree
  • Syndrome

Cite this