[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma].
OBJECTIVE
To analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype.


METHODS
Genomic DNA was extracted from peripheral blood samples of 12 patients and 13 healthy individuals from the family and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 and 6 of KRT9 gene. PCR products were sequenced bidirectionally in order to identify potential mutations.


RESULTS
A heterozygous transversional mutation, 488G→A, was identified in exon 1 of KRT9 gene in all patients, which has resulted in substitution of a glutamine residue for arginine acid at position 163 (R163Q) of the KRT9 protein. The same mutation was not found in the 13 healthy members from the family and 100 unrelated individuals.


CONCLUSIONS
The 488G→A mutation of KRT9 gene is probably the cause of EPPK in this Chinese family.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China.
Yan-li
YL
Li
Na-na
NN
Li
Yan-ping
YP
Wang
Ming-rong
MR
Li
Li
L
Dai
Ying
Y
Deng
Zhen
Z
Liu
De-zhi
DZ
Mu
Jun
J
Zhu
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D053534:Keratin-9 / Q000235:genetics*; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
C507440:KRT9 protein, human; D053534:Keratin-9