Mutations Of Cylindromatosis Tumor-Suppressor Gene In A Family Of Multiple Familial Trichoepithelioma

Objective To identify mutations in exon 16, 18 of the gene CYLD in a Chinese family with MFT in Shandong province and clarify the pathogenesis of MFT more clearly. Methods We collected the pedigree members' clinical data and blood samples. Afterwards the genomic DNA of peripheral blood were extracted. And then we detected exon 16, 18 of the gene CYLD by automated sequence analysis. Results We did not detected mutations in exon 16, 18 of the gene CYLD in the family with MFT . Conclusion Multiple family trichoepithelioma is a genetically heterogeneous disorder.