The Turkish Journal of Pediatrics 2010 , Vol 52 , Num 5
Novel Nonsense Mutation of GPC3 Gene in a Patient with Simpson-Golabi-Behmel Syndrome
Department of Medical Genetics, National Institute of Health, and laboratory of Human Genomics, University Mohammed V Souissi, Faculty of Medicine and Pharmacy, Rabat, Morocco, and 3Genetic Service, CHRU Tours, Tours, France Ratbi I, Chafai Elalaoui S, Moizard MP, Raynaud M, Sefiani A. Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. Turk J Pediatr 2010;52: 525-528.

Simpson-Golabi-Behmel Syndrome (SGBS) is a rare recessive X-linked disorder characterized by pre- and postnatal overgrowth, distinctive dysmorphic facies and variable congenital malformations. Most cases have been attributed to mutations in the Glypican-3 (GPC3) gene located at Xq26. Glypican-3 plays essential roles in development by modulating cellular responses to growth factors and morphogens. We report here a novel nonsense mutation of the GPC3 gene in a five-year-old Moroccan patient of consanguineous parents who had SGBS phenotype associated with congenital hypothyroidism. Keywords : GPC3 gene, congenital hypothyroidism, supernumerary nipple, overgrowth, Simpson-Golabi-Behmel syndrome.

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