A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology
Language English Country United States Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Carcinoma, Adenoid Cystic genetics pathology MeSH
- Deubiquitinating Enzyme CYLD MeSH
- Exons genetics MeSH
- Introns genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- DNA Mutational Analysis MeSH
- Tumor Suppressor Proteins genetics MeSH
- Skin Neoplasms genetics pathology MeSH
- Reverse Transcriptase Polymerase Chain Reaction MeSH
- Syndrome MeSH
- Loss of Heterozygosity MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- CYLD protein, human MeSH Browser
- Deubiquitinating Enzyme CYLD MeSH
- Tumor Suppressor Proteins MeSH
We present a case of Brooke-Spiegler syndrome with a germline deep intronic mutation in the CYLD gene leading to intronic exonization. Additionally, diverse somatic mutations were identified, namely loss of heterozygosity, a recurrent nonsense mutation, and a sequence mutation causing exon skipping. These somatic aberrations were identified in 4 different cylindromas that had been removed from the patient. Additionally, we microscopically studied a spiradenocylindroma that showed unusual histology, including foci of follicular differentiation. A deep intronic mutation resulting in exonization and a somatic sequence mutations causing exon skipping are hitherto unreported genetic mechanisms involving the CYLD gene in patients with Brooke-Spiegler syndrome.
References provided by Crossref.org
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update
