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

Gustav Askaner; Ulrikke Lei; Birgitte Bertelsen; Alessandro Venzo; Karin Wadt

doi:10.1155/2019/9650184

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

Gustav Askaner, Ulrikke Lei, Birgitte Bertelsen, Alessandro Venzo, Karin Wadt

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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.

Originalsprog	Engelsk
Artikelnummer	9650184
Tidsskrift	Case Reports in Genetics
Vol/bind	2019
Antal sider	6
ISSN	2090-6544
DOI	https://doi.org/10.1155/2019/9650184
Status	Udgivet - 2019

Adgang til dokumentet

10.1155/2019/9650184Licens: CC BY

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeForlagets udgivne version, 3,24 MBLicens: CC BY

Citationsformater

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title = "Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome",

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.",

author = "Gustav Askaner and Ulrikke Lei and Birgitte Bertelsen and Alessandro Venzo and Karin Wadt",

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T1 - Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

AU - Askaner, Gustav

AU - Lei, Ulrikke

AU - Bertelsen, Birgitte

AU - Venzo, Alessandro

AU - Wadt, Karin

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

U2 - 10.1155/2019/9650184

DO - 10.1155/2019/9650184

M3 - Journal article

C2 - 31485359

VL - 2019

JO - Case Reports in Genetics

JF - Case Reports in Genetics

SN - 2090-6544

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