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.
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Acknowledgments
This work was funded by grants from Nanjing Medical University Technology Development Found (NY0580). We are most grateful to all members of family for participating in this study.
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F.-X. Wang and L.-J. Yang contributed equally to this work.
An erratum to this article can be found at http://dx.doi.org/10.1007/s00403-010-1038-3
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Wang, FX., Yang, LJ., Li, M. et al. A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. Arch Dermatol Res 302, 67–70 (2010). https://doi.org/10.1007/s00403-009-1003-1
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DOI: https://doi.org/10.1007/s00403-009-1003-1