Yong Lu was a master's degree candidate at the institute, and now is at the Development Biology Laboratory of Shanghai.
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads†
Article first published online: 21 MAR 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 120A, Issue 3, pages 345–349, 30 July 2003
How to Cite
Lu, Y., Guo, C., Liu, Q., Zhang, X., Cheng, L., Li, J., Chen, B., Gao, G., Zhou, H., Guo, Y., Li, Y. and Gong, Y. (2003), A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am. J. Med. Genet., 120A: 345–349. doi: 10.1002/ajmg.a.20090
- Issue published online: 24 JUN 2003
- Article first published online: 21 MAR 2003
- Manuscript Accepted: 10 DEC 2002
- Manuscript Received: 27 JUL 2002
- National Natural Science Foundation of China. Grant Number: 30028014
- epidermolytic palmoplantar keratoderma;
- knuckle pads;
- keratin 9
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. © 2003 Wiley-Liss, Inc.