Article
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
The Journal of investigative dermatology - 1 Apr 2001
Hatsell S J, Eady R A, Wennerstrand L, Dopping-Hepenstal P, Leigh I M, Munro C, Kelsell D P
Abstract excerpt
We report a novel mutation in the exon 6 splice donor site of keratin 1 (G4134A) that segregates with a palmoplantar keratoderma in three kindreds. The nucleotide substitution leads to the utilization of a novel in-frame splice site 54 bases downstream of the mutation with the subsequent insertion of 18 amino acids into the 2B rod domain. This mutation appears to have a milder effect than previously described...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA, Recombinant
- Epidermis
- Haplotypes
- Humans
- Keratinocytes
- Keratins
- Keratoderma, Palmoplantar
- Microsatellite Repeats
- Microscopy, Electron
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Isoforms