[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin disorders caused by mutations in the keratin genes K5 or K14. We examined five Danish families with EBS-Weber-Cockayne (WC) or EBS-Koebner (K) and two sporadic cases of EBS-Dowling-Meara (DM) in order to investigate the mutational spectrum and evaluate the genotype-phenotype correlation in Danish patients. Three new K14 mutations, one new and one previously described K5 mutation were identified by DNA sequence analysis. The positions of the EBS-DM mutations were consistent with previous studies, whereas the EBS-WC and EBS-K mutations were found in regions of the keratin genes not typically associated with this type of EBS mutations. In conclusion, we found a strict genotype-phenotype correlation. Furthermore, we found that the position of the mutation in the keratin gene is not the only determinant for severity of the disease; the nature of the amino acid substitution should also be considered when predicting the severity of the EBS disorder.
Sørensen
C B
CB
Arhus Universitetshospital, Skejby Sygehus, Molekylaer Medicinsk Forskningsenhed.
Ladekjaer-Mikkelsen
A S
AS
Andresen
B S
BS
Brandrup
F
F
Veien
N K
NK
Buus
S K
SK
Anton-Lamprecht
I
I
Kruse
T
T
Jensen
P K
PK
Eiberg
H
H
Bolund
L
L
Gregersen
N
N
D004252:DNA Mutational Analysis; D003718:Denmark; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007633:Keratins / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
D007633:Keratins