A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma

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Abstract

Multiple familial trichoepithelioma (MFT) is an autosomal dominant skin disorder that is characterized by childhood onset of numerous skin-colored papules and nodules on the central face that originate from hair follicles. Mutations in CYLD, the disease gene of familial cylindromatosis, have recently been detected in several families presented with MFT phenotype. CYLD has been shown to be a tumor suppressor gene. CYLD functions as a negative regulator of the transcription factor NF-kB, which protects against apoptosis, and inactivation or mutation of the CYLD gene contributes to oncogenesis. Here, we report a novel splicing mutation (IVS16+1G>T) in the CYLD gene in a Taiwanese family with MFT.

Original languageEnglish
Pages (from-to)128-131
Number of pages4
JournalDermatologica Sinica
Volume25
Issue number2
Publication statusPublished - 2007 Jun 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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