title: Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene.
abstract: Mutations in the gene encoding glypican (GPC) 3 appear to be responsible for most cases of Simpson-Golabi-Behmel syndrome type 1. Duplication of the GPC4 gene has also been associated to this syndrome; however, no duplications involving GPC3 have been related. We describe a family that harbors a novel exon 2-4 duplication event leading to a truncating germline mutation of the GPC3 gene that, to our knowledge, has not been previously reported. GPC3 transcripts that carry this duplication bear non-functional proteins making its pathogenic role highly probable. The absence of a functional GPC3 may alter the normal differentiation of embryonal mesodermal tissues predisposing to the development of embryonal tumors, as the index case studied who developed a hepatoblastoma at age 9 months.
authors: Pediatric Oncology Unit, Department of Pediatrics, University Hospital Reina Sofía, Córdoba, Spain. marielmateos@gmail.com
authors: María Elena
authors: ME
authors: Mateos
authors: Katrin
authors: K
authors: Beyer
authors: Eduardo
authors: E
authors: López-Laso
authors: Juan López
authors: JL
authors: Siles
authors: Juan Luis
authors: JL
authors: Pérez-Navero
authors: María José
authors: MJ
authors: Peña
authors: Juana
authors: J
authors: Guzmán
authors: Juliana
authors: J
authors: Matas
mesh_terms: D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D005877:Gigantism / Q000175:diagnosis / Q000235:genetics*; D053673:Glypicans / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D018197:Hepatoblastoma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans