Three mutations of CYLD gene in chinese families with multiple familial trichoepithelioma

摘要

To the Editor: Multiple familial trichoepithelioma (MFT, OMIM 601606) is an autosomal dominantly inherited disease characterized by numerous skin-colored papules with pilar differentiation. Mutations in the CYLD gene on chromosome 16q12-q13 have been identified as the cause of MFT, familial cylindromatosis, and Brooke-Spiegler syndrome (BSS). Herein, we performed mutation detection of the CYLD gene in 3 Chinese families with MFT. We found a novel frameshift mutation (c.2255delT) and 2 recurrent nonsense mutations (c.112C>A and c.2299A>T), the latter was first reported associated with MFT.