Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families
✍ Scribed by Hughes-Benzie, R.M.; Pilia, G.; Xuan, J.Y.; Hunter, A.G.W.; Chen, E.; Golabi, M.; Hurst, J.A.; Kobori, J.; Marymee, K.; Pagon, R.A.; Punnett, H.H.; Schelley, S.; Tolmie, J.L.; Wohlferd, M.M.; Grossman, T.; Schlessinger, D.; MacKenzie, A.E.
- Book ID
- 102646973
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 719 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996]. We have used Southern blot analysis and polymerase chain reaction amplification of intra-exonic sequences to identify four new GPC3 mutations and further characterize three previously reported SGBS mutations. De novo GPC3 mutations were identified in 2 families. In general, the mutations were unique deletions ranging from less than 0.1 kb to more than 300 kb in length with no evidence of a mutational hot spot discerned. The lack of correlation between the phenotype of 18 affected males from these 7 families and the location and size of the GPC3 gene mutations suggest that SGBS is caused by a nonfunctional GPC3 protein.