Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Novel Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. The molecular profile of mucosal melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Occupational Skin Cancer in a Crematory Operator

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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 languageEnglish
JournalCase Reports in Genetics
Volume2019
Pages (from-to)9650184
ISSN2090-6544
DOIs
Publication statusPublished - 2019

ID: 58312570