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

• Published in: Journal of medical genetics Vol. 34; no. 6; pp. 480 - 483
• Main Authors: Lindsay, S, Ireland, M, O'Brien, O, Clayton-Smith, J, Hurst, J A, Mann, J, Cole, T, Sampson, J, Slaney, S, Schlessinger, D, Burn, J, Pilia, G
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-06-1997; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Child; Complex syndromes; Exons; Face - abnormalities; Genetic Linkage; Glypicans; Growth Disorders - genetics; Heparan Sulfate Proteoglycans; Heparitin Sulfate - genetics; Humans; Male; Medical genetics; Medical sciences; Phenotype; Polymerase Chain Reaction; Proteoglycans - genetics; Sequence Deletion; Syndrome; X Chromosome - genetics; Human; Genetic inheritance; Stomatology; Diseases of the osteoarticular system; Deletion; Genetics; Frequency; Dysmorphic facies; Complex syndrome; Simpson Golabi Behmel syndrome
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.34.6.480

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.