Open AccessA KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita
Author(s) -
Li Gong,
Shuangshuang Guo,
Detong Wang,
Ting Wang,
Xiaoli Ren,
Yuting Yuan,
Hongzhou Cui
Publication year - 2021
Publication title -
international journal of general medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.722
H-Index - 36
ISSN - 1178-7074
DOI - 10.2147/ijgm.s280160
Subject(s) - genodermatosis , missense mutation , palmoplantar keratoderma , sanger sequencing , exon , genetics , medicine , mutation , gene , epidermolysis bullosa simplex , microbiology and biotechnology , biology
Pachyonychia congenita (PC) is a rare, autosomal dominant genodermatosis characterized by palmoplantar keratoderma, nail dystrophy, cystic lesions, follicular hyperkeratosis, mucosal leukokeratoses, hyperhidrosis, hoarseness, and, rarely, natal teeth. Five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 and KRT17 , have been found to be associated with PC.