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| KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA |
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| Author(s): MCLEAN WHI, RUGG EL, LUNNY DP, MORLEY SM, LANE EB, SWENSSON O, DOPPINGHEPENSTAL PJC, GRIFFITHS WAD, EADY RAJ, HIGGINS C, NAVSARIA HA, LEIGH IM, STRACHAN T, KUNKELER L, MUNRO CS |
| Source: NATURE GENETICS Volume: 9 Issue: 3 Pages: 273-278 Published: MAR 1995 |
| Times Cited: 184 References: 48 |
| Abstract: Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) cosegregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC. |
| Document Type: Article |
| Language: English |
| Reprint Address: MCLEAN, WHI (reprint author), UNIV DUNDEE, INST MED SCI, DEPT ANAT & PHYSIOL, CANC RES CAMPAIGN LABS, CELL STRUCT RES GRP, DUNDEE DD1 4HN, SCOTLAND |
Addresses:
1. UNITED MED & DENT SCH, ST THOMAS HOSP, ST JOHNS INST DERMATOL, LONDON SE1 7EH, ENGLAND
2. ROYAL LONDON HOSP, COLL MED, EXPTL DERMATOL LABS, LONDON E1 6BL, ENGLAND
3. UNIV NEWCASTLE UPON TYNE, DEPT HUMAN GENET, NEWCASTLE UPON TYNE NE1 7RU, TYNE & WEAR ENGLAND
4. SO GEN HOSP, DEPT DERMATOL, GLASGOW G51 4TF, LANARK SCOTLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: QL232 |
| ISSN: 1061-4036 |
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