Novel mutations in DSG1 causing striate palmoplantar keratoderma.
BACKGROUND
Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1.


METHODS
Three families with nine affected members were assessed using a candidate gene-based screening approach.


RESULTS
In all three families, new heterozygous mutations were found in DSG1.


CONCLUSIONS
Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1.
Hershkovitz
D
D
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel.
Lugassy
J
J
Indelman
M
M
Bergman
R
R
Sprecher
E
E
D049109:Cell Proliferation; D004252:DNA Mutational Analysis; D051183:Desmoglein 1 / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics*; D005190:Family / Q000208:ethnology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D053556:Keratin-1 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction
D051183:Desmoglein 1; D051180:Desmoplakins; D053556:Keratin-1