A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome
Brooke-Spiegler syndrome (BSS; OMIM 605041) is an autosomal dominant disease characterized by skin appendage tumors due to mutations in the cylindromatosis gene (CYLD). We investigated a Hungarian BSS pedigree with two affected members, father and daughter. Direct sequencing demonstrated a novel mis...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
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2012
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| Sorozat: | EXPERIMENTAL DERMATOLOGY
21 No. 12 |
| doi: | 10.1111/exd.12040 |
| mtmt: | 2159751 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/21404 |
| Tartalmi kivonat: | Brooke-Spiegler syndrome (BSS; OMIM 605041) is an autosomal dominant disease characterized by skin appendage tumors due to mutations in the cylindromatosis gene (CYLD). We investigated a Hungarian BSS pedigree with two affected members, father and daughter. Direct sequencing demonstrated a novel missense mutation (c.2613C>G; p.His871Gln) in exon 19 within the ubiquitin-specific protease domain of the encoded protein. We performed preliminary analysis to reveal the functional role of this novel mutation. Our data suggest that this novel CYLD mutation leads to increased ubiquitination of NEMO through influencing deubiquitinating activity of the CYLD protein and thus may result in enhanced NF-kappaB signalling. |
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| Terjedelem/Fizikai jellemzők: | 967-969 |
| ISSN: | 0906-6705 |