Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
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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.
I: Case Reports in Genetics, Bind 2019, 9650184, 2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
C2 - 31485359
VL - 2019
JO - Case Reports in Genetics
JF - Case Reports in Genetics
SN - 2090-6544
M1 - 9650184
ER -
ID: 236665543