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| KERATIN-9 GENE-MUTATIONS IN EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (EPPK) |
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| Author(s): REIS A, HENNIES HC, LANGBEIN L, DIGWEED M, MISCHKE D, DRECHSLER M, SCHROCK E, ROYERPOKORA B, FRANKE WW, SPERLING K, KUSTER W |
| Source: NATURE GENETICS Volume: 6 Issue: 2 Pages: 174-179 Published: FEB 1994 |
| Times Cited: 169 References: 41 |
| Abstract: We have isolated the gene for human type l keratin 9(KRT9) and localised it to chromosome 17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK), an autosomal dominant skin disease, were investigated. Three KRT9 mutations, N160K, R162Q, and R162W, were identified. All the mutations are in the highly conserved coil 1A of the rod domain, thought to be important for heterodimerisation. R162W was detected in five unrelated families and affects the corresponding residue in the keratin 14 and keratin 10 genes that is also altered in cases of epidermolysis bullosa simplex and generalised epidermolytic hyperkeratosis, respectively. These findings provide further evidence that mutations in keratin genes may cause epidermolysis and hyperkeratosis and that hyperkeratosis of palms and soles may be caused by different mutations in the KRT9 gene. |
| Document Type: Article |
| Language: English |
| Reprint Address: REIS, A (reprint author), FREE UNIV BERLIN, INST HUMAN GENET, HEUBNERWEG 6, D-14059 BERLIN, GERMANY |
Addresses:
1. GERMAN CANC RES CTR, DIV CELL BIOL, D-69120 HEIDELBERG, GERMANY
2. FREE UNIV BERLIN, DEPT EXPTL ONCOL & TRANSPLANTAT MED, D-14050 BERLIN, GERMANY
3. UNIV HEIDELBERG, INST HUMAN GENET, D-69120 HEIDELBERG, GERMANY
4. UNIV MARBURG, DEPT DERMATOL, D-35037 MARBURG, GERMANY |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MU763 |
| ISSN: 1061-4036 |
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