Abstract | BACKGROUND: METHODS: Recently we have identified a Spanish MFT1 pedigree with two affected family members (father and daughter). Direct sequencing of the CYLD gene revealed a worldwide recurrent heterozygous nonsense mutation (c.2272C/T, p.R758X) in the patients. RESULTS: This mutation has already been detected in patients with all three clinical variants - BSS, FC and MFT1 - of the CYLD-mutation spectrum. Haplotype analysis was performed for the Spanish patients with MFT1, Dutch patients with FC and an Austrian patient with BSS, all of whom carry the same heterozygous nonsense p.R758X CYLD mutation. CONCLUSIONS: Our results indicate that this position is a mutational hotspot on the gene and that patients carrying the mutation exhibit high phenotypic diversity.
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Authors | Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, Ana Mercedes Victoria Martínez, Juan José Vilata Corell, Alfredo Montoro Botella, Goitzane Marcaida Benito, Raquel Rodríguez López, Tomas Vanecek, Dmitry V Kazakov, Joan N R Kromosoeto, Ans M W van den Ouweland, János Varga, Márta Széll, Nikoletta Nagy |
Journal | BMC genetics
(BMC Genet)
Vol. 17
Pg. 36
(Feb 09 2016)
ISSN: 1471-2156 [Electronic] England |
PMID | 26861065
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Codon, Nonsense
- Tumor Suppressor Proteins
- CYLD protein, human
- Deubiquitinating Enzyme CYLD
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Topics |
- Austria
- Codon, Nonsense
- Deubiquitinating Enzyme CYLD
- Female
- Haplotypes
- Heterozygote
- Humans
- Male
- Middle Aged
- Neoplastic Syndromes, Hereditary
(diagnosis, genetics)
- Netherlands
- Pedigree
- Phenotype
- Sequence Analysis, DNA
- Skin Neoplasms
(diagnosis, genetics)
- Spain
- Tumor Suppressor Proteins
(genetics)
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