Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita....Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia congenita, where either a mutation has not been found or has not been investigated. Objectives: The present aim was to indentify the mutation of keratin 6a or keratin 16 gene in the pachyonychia congenita patient. Methods: The proband, her parents and 100 unrelated controls were subjected to mutation detection in keratin 6a or keratin 16 gene. Direct sequencing of all PCR products of the whole coding regions of keratin 6a or keratin 16 was performed to identify the mutation. Results: No mutation was found in keratin 6a or keratin 16 in the proband, her parents, and 100 unrelated and unaffected people. Conclusion: This study reported a Chinese female affected with pachyonychia congenita-1 without mutation in keratin gene.展开更多
文摘Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia congenita, where either a mutation has not been found or has not been investigated. Objectives: The present aim was to indentify the mutation of keratin 6a or keratin 16 gene in the pachyonychia congenita patient. Methods: The proband, her parents and 100 unrelated controls were subjected to mutation detection in keratin 6a or keratin 16 gene. Direct sequencing of all PCR products of the whole coding regions of keratin 6a or keratin 16 was performed to identify the mutation. Results: No mutation was found in keratin 6a or keratin 16 in the proband, her parents, and 100 unrelated and unaffected people. Conclusion: This study reported a Chinese female affected with pachyonychia congenita-1 without mutation in keratin gene.
