title: Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
abstract: BACKGROUND
  Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
  
  
  METHODS
  Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing.
  
  
  RESULTS
  NSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome.
  
  
  CONCLUSIONS
  Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn.
authors.affiliation: Clinical Genetic Service, Department of Health, Hong Kong SAR, China. so_cg@dh.gov.hk
authors.forename: Tony M F
authors.initials: TM
authors.lastname: Tong
authors.forename: Edgar W L
authors.initials: EW
authors.lastname: Hau
authors.forename: Ivan F M
authors.initials: IF
authors.lastname: Lo
authors.forename: Daniel H C
authors.initials: DH
authors.lastname: Chan
authors.forename: Stephen T S
authors.initials: ST
authors.lastname: Lam
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; 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