Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. (28th July 2019)

• Record Type: Journal Article
• Authors: Askaner, Gustav; Lei, Ulrikke; Bertelsen, Birgitte; Venzo, Alessandro; Wadt, Karin
• Other Names: Yapijakis Christos Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2019(2019)
• Publication Date: 2019-07-28
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2019/9650184
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ. We present a family with a frameshift variant in the SUFU gene c.954del, p.Asn319Thrfs∗ 42 leading to meningiomas and multiple basal cell-carcinomas.