[Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma].
OBJECTIVE
To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK).


METHODS
Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing.


RESULTS
A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals.


CONCLUSIONS
A missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.
Li
Ming
M
Department of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu, 214002 People's Republic of China.
Zhang
Guo-long
GL
Zhai
Jian-xin
JX
Wei
Ling
L
Zhu
Xiao-hong
XH
Dai
Xun-yi
XY
Yang
Li-jia
LJ
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
D053534:Keratin-9