TITLE:
A Research of Pachyonychia Congenita Type 1 and Literature Analysis
AUTHORS:
Kun Guo, Shengxiang Xiao, Songmei Geng
KEYWORDS:
Pachyonychia Congenital; Pachyonychia Congenital-U; Mutation
JOURNAL NAME:
Open Journal of Genetics,
Vol.4 No.1,
March
5,
2014
ABSTRACT: 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.