A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family
- aMolecular Genetics Laboratory, Children’s Hospital of Eastern Ontario, Ottawa, Ontario K1H 8L1, Canada, bDepartments of Biochemistry and Pediatrics, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada, cSouthern Alberta Cancer Research Centre, University of Calgary, Calgary, Alberta T2N 4N1, Canada
- Dr MacKenzie.
- Received 13 March 1998
- Revised 26 May 1998
Abstract
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.
