A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome

作者：Nagy Nikoletta^*; Farkas Katalin; Kinyo Agnes; Nemeth Istvan B; Kis Erika; Varga Janos; Bata Csorgo Zsuzsanna; Kemeny Lajos; Szell Marta

来源：Experimental Dermatology, 2012, 21(12): 967-969.

DOI：10.1111/exd.12040

• appendage tumor
• Brooke-Spiegler syndrome
• CYLD gene
• NEMO protein
• ubiquitination

BrookeSpiegler 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%26gt;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-?B signalling.

• 出版日期2012-12