A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom-knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.
Lu
Yong
Y
Research Institute of Medical Genetics, School of Medicine, Shandong University, Jinan Shandong, People's Republic of China.
Guo
Chenhong
C
Liu
Qiji
Q
Zhang
Xiyu
X
Cheng
Lin
L
Li
Jiangxia
J
Chen
Bingxi
B
Gao
Guimin
G
Zhou
Haibin
H
Guo
Yishou
Y
Li
Yefu
Y
Gong
Yaoqin
Y
D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D017433:Protein Structure, Secondary; D017422:Sequence Analysis, DNA
D007633:Keratins