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Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
  1. S Lindsay,
  2. M Ireland,
  3. O O'Brien,
  4. J Clayton-Smith,
  5. J A Hurst,
  6. J Mann,
  7. T Cole,
  8. J Sampson,
  9. S Slaney,
  10. D Schlessinger,
  11. J Burn,
  12. G Pilia
  1. Department of Human Genetics, University of Newcastle upon Tyne, UK.


    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.

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