title: Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
abstract: 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.
authors: Department of Medical Genetics, National Institute of Health, Morocco.
authors: Ilham
authors: I
authors: Ratbi
authors: Siham Chafai
authors: SC
authors: Elalaoui
authors: Marie-Pierre
authors: MP
authors: Moizard
authors: Martine
authors: M
authors: Raynaud
authors: Abdelaziz
authors: A
authors: Sefiani
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics; D018389:Codon, Nonsense; D003409:Congenital Hypothyroidism / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D040181:Genetic Diseases, X-Linked; D005877:Gigantism / Q000235:genetics; D053673:Glypicans / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009018:Morocco
chemical_list: D018389:Codon, Nonsense; C105937:GPC3 protein, human; D053673:Glypicans