Haploinsufficiency of NSD1 causes Sotos syndrome

Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18.

Abstract

We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.

MeSH terms

  • Acromegaly / genetics*
  • Base Sequence
  • Carrier Proteins / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5
  • Cloning, Molecular
  • Codon, Nonsense
  • Cosmids
  • DNA, Complementary / metabolism
  • Exons
  • Facial Bones / abnormalities
  • Frameshift Mutation
  • Gene Deletion
  • Gigantism / genetics
  • Growth Disorders / genetics
  • Heterozygote
  • Histone Methyltransferases
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intracellular Signaling Peptides and Proteins*
  • Models, Genetic
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Sequence Homology, Nucleic Acid
  • Syndrome
  • Translocation, Genetic

Substances

  • Carrier Proteins
  • Codon, Nonsense
  • DNA, Complementary
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • NSD1 protein, human

Associated data

  • GENBANK/AC027314
  • GENBANK/AF395588