Short report
A small interstitial deletion in the GPC3 gene causes
Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family
Jian Y Xuana, Rhiannon M Hughes-Benziec, Alex E MacKenziea b
a Molecular Genetics
Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Ontario
K1H 8L1, Canada, b Departments of Biochemistry and Pediatrics,
University of Ottawa, Ottawa, Ontario K1H 8M5, Canada, c Southern Alberta Cancer Research
Centre, University of Calgary, Calgary, Alberta T2N 4N1, Canada
Correspondence to: Dr MacKenzie.
Received 13
March 1998;
Revised version accepted for publication 26 May 1998
Deletions in the heparan sulphate proteoglycan
encoding glypican 3 (GPC3) gene have recently been documented in
several Simpson-Golabi-Behmel syndrome (SGBS) families. However, no
precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and premature termination
of the GPC3 gene in the Dutch-Canadian SGBS family in whom the trait
was originally mapped. Our analysis shows that a discrete GPC3
disabling mutation is sufficient to cause SGBS. Furthermore, our
finding of a GPC3 normal daughter of an SGBS carrier with skeletal
abnormalities and Wilms tumour raises the possibility of a trans effect
from the maternal carrier in SGBS kindreds.
Keywords: Simpson-Golabi-Behmel syndrome; glypican 3; Wilms tumour
© 1999 by J Med Genet
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