Abstract
Multiple familial trichoepithelioma (MFT, OMIM 601606) is an autosomal dominantly inherited disease. It is characterized by numerous skin-colored papules on the central face. Pathogenic mutations in the CYLD gene have been identified. In this report, we identified a novel mutation of CYLD gene in a Chinese family with MFT. It is a novel heterozygous nucleotide G-->A transition at position 2,317 in exon 17 of the CYLD gene. Our study expands the database on the CYLD gene mutations in MFT.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Carcinoma / diagnosis
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Carcinoma / genetics*
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Carcinoma / metabolism
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Carcinoma / pathology
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China
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Chromosome Disorders
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Chromosomes, Human, Pair 16*
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DNA Mutational Analysis
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Deubiquitinating Enzyme CYLD
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Family
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Female
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Genetic Testing
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Humans
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Male
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Mutation, Missense / genetics*
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Pedigree
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Skin Neoplasms / diagnosis
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Skin Neoplasms / genetics*
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Skin Neoplasms / metabolism
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Skin Neoplasms / pathology
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Tumor Suppressor Proteins / genetics
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Tumor Suppressor Proteins / metabolism*
Substances
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Tumor Suppressor Proteins
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CYLD protein, human
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Deubiquitinating Enzyme CYLD