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Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.
- Source :
-
Archives of dermatological research [Arch Dermatol Res] 2018 Sep; Vol. 310 (7), pp. 599-606. Date of Electronic Publication: 2018 Jul 04. - Publication Year :
- 2018
-
Abstract
- 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.
- Subjects :
- Carcinoma, Adenoid Cystic pathology
DNA Mutational Analysis methods
Genetic Predisposition to Disease
Humans
Neoplastic Syndromes, Hereditary pathology
Phenotype
Polymerase Chain Reaction
Skin Neoplasms pathology
Biomarkers, Tumor genetics
Carcinoma, Adenoid Cystic genetics
Deubiquitinating Enzyme CYLD genetics
Mutation
Neoplastic Syndromes, Hereditary genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-069X
- Volume :
- 310
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Archives of dermatological research
- Publication Type :
- Academic Journal
- Accession number :
- 29974194
- Full Text :
- https://doi.org/10.1007/s00403-018-1848-2