[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
OBJECTIVE
To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree.


METHODS
Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing.


RESULTS
We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals.


CONCLUSIONS
The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Sun
Xia
X
National Laboratory of Medical Genetics of China, Central South University, Changsha, China. nlmgley@xysm.net
Yin
Xin-Zhen
XZ
Wu
Ling-Qian
LQ
Shi
Xiao-Liu
XL
Hu
Zheng-Mao
ZM
Liu
Xiao-Ping
XP
Pan
Qian
Q
Dai
He-Ping
HP
Xia
Kun
K
Xia
Jia-Hui
JH
D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007633:Keratins / Q000235:genetics*; D015776:Keratoderma, Palmoplantar, Diffuse / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
D007633:Keratins