Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
March 2011
Article
volume 10, issue 1 pp 127-132.
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Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. To date, only technologies which are able to identify small point mutations in CYLD, such as sequence and WAVE analysis, were used. Here we describe the identification of a larger rearrangement identified by Quantitative PCR analysis of CYLD, indicating that a combination of these technologies is necessary when searching for pathogenic mutations in CYLD.
Keywords
- adult
- article
- female
- human
- priority journal
- controlled study
- clinical article
- gene mutation
- nucleotide sequence
- gene rearrangement
- polymerase chain reaction
- familial cancer
- gene identification
- Mutation analysis
- cylindroma
- tumor gene
- CYLD
- Familial cylindromatosis
- Q-PCR analysis
- cyld gene
- Large rearrangement
Automatically Extracted Terms
- patient
- mutation
- identi fied
- identi
- analysis
- cylindromatosi
- unclassi fied variant
- sequence
- deletion
- brooke-spiegler syndrome
- rearrangement
- variant
- trichoepithelioma
- exon 20
- fication
- unclassi
- syndrome
- genet
- sequence analysis
- brooke-spiegler
