L. Pastorino and P. Ghiorzo contributed equally to this work.
Article first published online: 16 JUN 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 7, pages 1539–1543, July 2009
How to Cite
Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garrè, M.L., Clementi, M. and Scarrà, G. B. (2009), Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am. J. Med. Genet., 149A: 1539–1543. doi: 10.1002/ajmg.a.32944
How to cite this article: Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Bianchi Scarrà G. 2009. Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet Part A 149A:1539–1543.
- Issue published online: 18 JUN 2009
- Article first published online: 16 JUN 2009
- Manuscript Accepted: 28 APR 2009
- Manuscript Received: 3 DEC 2008
- University of Genoa, Athenaeum. Grant Number: 604/606
- Gorlin syndrome;
- basal cell nevus syndrome;
- nevoid basal cell carcinoma syndrome;
Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma. Between 50% and 85% of patients with GS harbor germ line mutations in the only susceptibility gene identified to date, PTCH1, a key component in the Sonic Hedgehog signaling pathway. Another component in this pathway, SUFU, is known to be involved in susceptibility to medulloblastoma but has never been reported in GS patients to date. We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. This is the first report of a germ line SUFU mutation associated with GS. © 2009 Wiley-Liss, Inc.