TY - JOUR
T1 - A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma
AU - Huang, T. M.
AU - Chao, S. C.
AU - Lee, J. Y.Y.
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1365-2230.2008.02870.x
DO - 10.1111/j.1365-2230.2008.02870.x
M3 - Article
C2 - 19076795
AN - SCOPUS:57349096561
SN - 0307-6938
VL - 34
SP - 77
EP - 80
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
IS - 1
ER -