Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

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...

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Autores principales: Askaner, Gustav, Lei, Ulrikke, Bertelsen, Birgitte, Venzo, Alessandro, Wadt, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702821/
https://www.ncbi.nlm.nih.gov/pubmed/31485359
http://dx.doi.org/10.1155/2019/9650184
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author Askaner, Gustav
Lei, Ulrikke
Bertelsen, Birgitte
Venzo, Alessandro
Wadt, Karin
author_facet Askaner, Gustav
Lei, Ulrikke
Bertelsen, Birgitte
Venzo, Alessandro
Wadt, Karin
author_sort Askaner, Gustav
collection PubMed
description 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.
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spelling pubmed-67028212019-09-04 Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome Askaner, Gustav Lei, Ulrikke Bertelsen, Birgitte Venzo, Alessandro Wadt, Karin Case Rep Genet Case Report 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. Hindawi 2019-07-28 /pmc/articles/PMC6702821/ /pubmed/31485359 http://dx.doi.org/10.1155/2019/9650184 Text en Copyright © 2019 Gustav Askaner et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
title Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
title_full Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
title_fullStr Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
title_full_unstemmed Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
title_short Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
title_sort novel sufu frameshift variant leading to meningioma in three generations in a family with gorlin syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702821/
https://www.ncbi.nlm.nih.gov/pubmed/31485359
http://dx.doi.org/10.1155/2019/9650184
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