Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Nat Genet. 1996 Mar;12(3):241-7. doi: 10.1038/ng0396-241.

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5' and 3' ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. 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. Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 16
  • Cloning, Molecular
  • DNA Primers
  • Female
  • Gene Deletion
  • Genetic Linkage
  • Glypicans
  • Growth Disorders / genetics*
  • HeLa Cells
  • Heparan Sulfate Proteoglycans*
  • Heparitin Sulfate / genetics*
  • Heparitin Sulfate / metabolism
  • Humans
  • Immunologic Techniques
  • Insulin-Like Growth Factor II / metabolism
  • Male
  • Mice
  • Molecular Sequence Data
  • Pedigree
  • Protein Binding
  • Proteoglycans / genetics*
  • Proteoglycans / metabolism
  • Sequence Homology, Amino Acid
  • Syndrome
  • Translocation, Genetic
  • Tumor Cells, Cultured
  • X Chromosome*

Substances

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

Associated data

  • GENBANK/L47124
  • GENBANK/L47125
  • GENBANK/L77878
  • GENBANK/L77879
  • GENBANK/L77880
  • GENBANK/L77881
  • GENBANK/L77882
  • GENBANK/L77883