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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Jun;34(6):480–483. doi: 10.1136/jmg.34.6.480

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

S Lindsay 1, M Ireland 1, O O'Brien 1, J Clayton-Smith 1, J A Hurst 1, J Mann 1, T Cole 1, J Sampson 1, S Slaney 1, D Schlessinger 1, J Burn 1, G Pilia 1
PMCID: PMC1050971  PMID: 9192268

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.

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Selected References

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