Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
Joint Authors
Askaner, Gustav
Lei, Ulrikke
Bertelsen, Birgitte
Venzo, Alessandro
Wadt, Karin
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-07-28
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Askaner, Gustav& Lei, Ulrikke& Bertelsen, Birgitte& Venzo, Alessandro& Wadt, Karin. 2019. Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136089
Modern Language Association (MLA)
Askaner, Gustav…[et al.]. Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. Case Reports in Genetics No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1136089
American Medical Association (AMA)
Askaner, Gustav& Lei, Ulrikke& Bertelsen, Birgitte& Venzo, Alessandro& Wadt, Karin. Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136089
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136089
