Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome

J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480.

Abstract

Aims of the study: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel syndrome (SGBS).

Subjects and methods: PCR analysis using primer pairs which amplify fragments from each of the eight exons of the GPC3 gene was carried out in a series of 18 families with SGBS (approximately half of reported cases).

Results: Deletions were detected in only five families (one reported previously). We found deletions in all exons of the gene except exon 3.

Conclusions: Our results suggest that large scale deletions may be less common in SGBS than was originally thought. One patient, with an exon 4 and 5 deletion, lacked the characteristic facial dysmorphic features. This raises the possibility of involvement of GPC3 gene defects in a wider range of overgrowth disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Exons
  • Face / abnormalities
  • Genetic Linkage
  • Glypicans
  • Growth Disorders / genetics*
  • Heparan Sulfate Proteoglycans*
  • Heparitin Sulfate / genetics*
  • Humans
  • Male
  • Phenotype
  • Polymerase Chain Reaction
  • Proteoglycans / genetics*
  • Sequence Deletion*
  • Syndrome
  • X Chromosome / genetics

Substances

  • Glypicans
  • Heparan Sulfate Proteoglycans
  • Proteoglycans
  • Heparitin Sulfate