title: A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome.
abstract: 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-κB signalling.
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.forename: Katalin
authors.initials: K
authors.lastname: Farkas
authors.forename: Agnes
authors.initials: A
authors.lastname: Kinyo
authors.forename: Istvan B
authors.initials: IB
authors.lastname: Nemeth
authors.forename: Erika
authors.initials: E
authors.lastname: Kis
authors.forename: János
authors.initials: J
authors.lastname: Varga
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Bata-Csorgo
authors.forename: Lajos
authors.initials: L
authors.lastname: Kemeny
authors.forename: Márta
authors.initials: M
authors.lastname: Szell
mesh_terms: D000328:Adult; D000074749:Deubiquitinating Enzyme CYLD; D005192:Family Health; D005260:Female; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism; D054875:Ubiquitination / Q000235:genetics
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD