Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene
| Autor: | Kathrin A. Giehl, Jorge Frank, Lizelotte J. M. T. Parren, Michel van Geel |
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| Přispěvatelé: | Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: MA Dermatologie (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Skin Neoplasms Tumor suppressor gene DNA Mutational Analysis CYLD Cylindroma CYLINDROMAS Dermatology Biology Trichoepithelioma VARIANTS SPIRADENOMA Polymerase Chain Reaction 03 medical and health sciences Brooke-Spiegler syndrome Neoplastic Syndromes Hereditary Familial cylindromatosis Gene duplication Multiple familial trichoepithelioma medicine Biomarkers Tumor Missense mutation Humans Genetic Predisposition to Disease Gene Genetics MESSENGER-RNA DECAY Genetic heterogeneity General Medicine BROOKE-SPIEGLER-SYNDROME medicine.disease Phenotype Carcinoma Adenoid Cystic CANCER Deubiquitinating Enzyme CYLD INSIGHTS 030104 developmental biology Mutation UPDATE SUPPRESSOR GENE |
| Zdroj: | Archives of Dermatological Research, 310(7), 599-606. Springer |
| ISSN: | 0340-3696 |
| DOI: | 10.1007/s00403-018-1848-2 |
| Popis: | Mutations in the tumor suppressor gene CYLD underlie phenotypically heterogeneous hereditary tumor disorders of the skin appendages. These diseases are inherited autosomal dominantly and include Brooke-Spiegler syndrome (BSS; OMIM 605041), familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma (MFT; OMIM 601606). Clinically, cylindromas, trichoepitheliomas and spiradenomas can be found in affected individuals. We sought to elucidate the molecular genetic basis in individuals with newly diagnosed cylindromas, trichoepitheliomas and/or spiradenomas. Mutation analysis using polymerase chain reaction (PCR)-based techniques was performed in seven German patients and one Turkish patient. We detected two missense, two nonsense, two deletions and two duplication mutations in the CYLD gene, of which seven have not yet been reported. No genotype-phenotype correlation was detected amongst the patients. Our data provide additional information on the clinical and molecular genetic heterogeneity of disorders associated with CYLD mutations. |
| Databáze: | OpenAIRE |
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