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A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma
Author(s) -
Huang T.M.,
Chao S.C.,
Lee J. Y.Y.
Publication year - 2009
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2008.02870.x
Subject(s) - exon , rna splicing , gene , genetics , mutation , biology , carcinogenesis , transcription factor , cancer research , rna
Summary Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by numerous skin‐coloured papules on the central face. Mutations in the CYLD gene, which is also the gene responsible for familial cylindromatosis, have been reported recently. Recent studies indicate that CYLD is a tumour‐suppressor gene. The CYLD protein is a negative regulator of the activation of transcription factor nuclear factor‐κB, and loss of CYLD contributes to oncogenesis. We report a novel splicing mutation (IVS12 + 1 G→A) in the CYLD gene in a Taiwanese pedigree with MFT, and discuss new developments in treatment options.