Conflicts of interests: none to declare.
Simpson–Golabi–Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC3 Gene
Article first published online: 5 MAR 2013
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 1091–1095, May 2013
How to Cite
2012. Simpson–Golabi–Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2–4 duplication of the GPC3 gene. Am J Med Genet Part A 161A:1091–1095., , , , , , , .
María Elena Mateos, Katrin Beyer, and Eduardo López-Laso contributed equally to this work.
- Issue published online: 22 APR 2013
- Article first published online: 5 MAR 2013
- Manuscript Accepted: 3 OCT 2012
- Manuscript Received: 13 FEB 2012
- Simpson–Golabi–Behmel syndrome;
- overgrowth syndrome;
- GPC3 gene;
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. © 2013 Wiley Periodicals, Inc.