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.

OriginalsprogEngelsk
Artikelnummer9650184
TidsskriftCase Reports in Genetics
Vol/bind2019
Antal sider6
ISSN2090-6544
DOI
StatusUdgivet - 2019

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