Article
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
Nature genetics - 1 Mar 1995
McLean W H, Rugg E L, Lunny D P, Morley S M, Lane E B, Swensson O, Dopping-Hepenstal P J, Griffiths W A, Eady R A, Higgins C
Abstract excerpt
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) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Primers
- Ectodermal Dysplasia
- Female
- Genes, Dominant
- Genotype
- Heterozygote
- Humans
- Keratins
- Male