Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

APA

CBE

MLA

Vancouver

Author

Bibtex

@article{1ffab7b8202b47e8b2dc94079750ec54,
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",
doi = "10.1155/2019/9650184",
language = "English",
volume = "2019",
pages = "9650184",
journal = "Case Reports in Genetics",
issn = "2090-6544",
publisher = "Hindawi Publishing Corporation",

}

RIS

TY - JOUR

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

VL - 2019

SP - 9650184

JO - Case Reports in Genetics

JF - Case Reports in Genetics

SN - 2090-6544

ER -

ID: 58312570