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A novel missense mutation of the CYLD gene identified in a H ungarian family with B rooke– S piegler syndrome
Author(s) -
Nagy Nikoletta,
Farkas Katalin,
Kinyo Ágnes,
Nemeth Istvan B.,
Kis Erika,
Varga János,
BataCsorgo Zsuzsanna,
Kemeny Lajos,
Szell Márta
Publication year - 2012
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.12040
Subject(s) - missense mutation , exon , mutation , ubiquitin , gene , genetics , biology , microbiology and biotechnology
B rooke– S piegler 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 H ungarian BSS pedigree with two affected members, father and daughter. Direct sequencing demonstrated a novel missense mutation (c.2613 C > G ; p. H is871 G ln) 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 ‐κ B signalling.