Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature

J Pediatr Endocrinol Metab. 2003 Feb;16(2):225-32. doi: 10.1515/jpem.2003.16.2.225.


Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome with associated visceral and skeletal anomalies. Deletions or point mutations involving the glypican-3 (GPC3) gene at Xq26 are associated with a relatively milder form of this disorder (SGBS1). GPC3 encodes a putative extracellular proteoglycan, glypican-3, that is inferred to play an important role in growth control in embryonic mesodermal tissues in which it is selectively expressed. It appears to form a complex with insulin-like growth factor-II (IGF-II), and might thereby modulate IGF-II action. We reviewed the clinical findings of all published patients with SGBS1 with GPC3 mutations to confirm the clinical specificity for the SGBS1 phenotype. Moreover, we report on a new patient with a GPC3 deletion and IGF-II evaluation.

Publication types

  • Case Reports

MeSH terms

  • DNA / genetics
  • Face / abnormalities*
  • Female
  • Gene Deletion
  • Genetic Diseases, X-Linked / genetics*
  • Glypicans
  • Heparan Sulfate Proteoglycans / genetics
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Insulin-Like Growth Factor II / genetics
  • Male
  • Nipples / abnormalities*
  • Pedigree
  • Phenotype
  • Point Mutation / genetics
  • Pregnancy
  • Syndrome
  • Urogenital Abnormalities / genetics*


  • Glypicans
  • Heparan Sulfate Proteoglycans
  • Insulin-Like Growth Factor II
  • DNA