Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
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...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/9650184 |
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| _version_ | 1849304838854148096 |
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| author | Gustav Askaner Ulrikke Lei Birgitte Bertelsen Alessandro Venzo Karin Wadt |
| author_facet | Gustav Askaner Ulrikke Lei Birgitte Bertelsen Alessandro Venzo Karin Wadt |
| author_sort | Gustav Askaner |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3a4dfb7644f24010ae729249613a9721 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-3a4dfb7644f24010ae729249613a97212025-08-20T03:55:37ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/96501849650184Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeGustav Askaner0Ulrikke Lei1Birgitte Bertelsen2Alessandro Venzo3Karin Wadt4Department of Plastic Surgery, Hospital South West Jutland, Esbjerg, DenmarkDepartment of Dermatology and Allergy, Gentofte Hospital and Rigshospitalet, Copenhagen University Hospital, Copenhagen, DenmarkCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DenmarkDepartment of Plastic Surgery and Burns Treatment, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DenmarkDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DenmarkGorlin 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.http://dx.doi.org/10.1155/2019/9650184 |
| spellingShingle | Gustav Askaner Ulrikke Lei Birgitte Bertelsen Alessandro Venzo Karin Wadt Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome Case Reports in Genetics |
| title | Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome |
| title_full | Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome |
| title_fullStr | Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome |
| title_full_unstemmed | Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome |
| title_short | Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome |
| title_sort | novel sufu frameshift variant leading to meningioma in three generations in a family with gorlin syndrome |
| url | http://dx.doi.org/10.1155/2019/9650184 |
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