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

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.

Original language	English
Journal	Case Reports in Genetics
Volume	2019
Pages (from-to)	9650184
ISSN	2090-6544
DOIs	https://doi.org/10.1155/2019/9650184
Publication status	Published - 2019

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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",

year = "2019",

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journal = "Case Reports in Genetics",

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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

SP - 9650184

JO - Case Reports in Genetics

JF - Case Reports in Genetics

SN - 2090-6544

ER -

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

Abstract

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