HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.

Abstract
Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene at Xq26, one member of a multigene family encoding for at least six distinct glycosylphophatidylinositol-linked cell surface heparan sulfate proteoglycans. As a class of molecules, heparan sulfate proteoglycans have been found to play essential roles in development by modulating cellular responses to growth factors and morphogens. Specifically, mutations in both the murine GPC3 gene and the Drosophila glypican, dally, have been found to modify cellular responses to bone morphogenetic proteins, providing important clues to the molecular basis of SGBS in humans. Despite these advances, there remains a paucity of information about the natural history of SGBS and optimal medical management strategies, and whether select mutations influence the SGBS phenotype and risk of cancer. To this end, an International SGBS Registry has been created and is being maintained to improve the clinical care and understanding of the pathogenesis of SGBS. Using an integrated approach employing epidemiology, molecular genetic characterization of specific GPC3 mutations, and the use of model organisms should rapidly expand the understanding of this complex disorder.
AuthorsM R DeBaun, J Ess, S Saunders
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 72 Issue 4 Pg. 279-86 (Apr 2001) ISSN: 1096-7192 [Print] United States
PMID11286501 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)
CopyrightCopyright 2001 Academic Press.
Chemical References
  • Glypicans
  • Heparan Sulfate Proteoglycans
Topics
  • Abnormalities, Multiple (genetics)
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Gigantism (genetics)
  • Glypicans
  • Growth Disorders (genetics)
  • Heparan Sulfate Proteoglycans (genetics)
  • Humans
  • Kidney (abnormalities)
  • Macroglossia (genetics)
  • Mutation
  • Neoplasms (diagnosis, genetics, therapy)
  • Polymorphism, Genetic
  • Risk Factors
  • Syndrome
  • Translocation, Genetic

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: