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


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.
Lindsay
S
S
Department of Human Genetics, University of Newcastle upon Tyne, UK.
Ireland
M
M
O'Brien
O
O
Clayton-Smith
J
J
Hurst
J A
JA
Mann
J
J
Cole
T
T
Sampson
J
J
Slaney
S
S
Schlessinger
D
D
Burn
J
J
Pilia
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005091:Exons; D005145:Face / Q000002:abnormalities; D008040:Genetic Linkage; D053673:Glypicans; D006130:Growth Disorders / Q000235:genetics*; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011509:Proteoglycans / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics
D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate; D011509:Proteoglycans