Open AccessMutations in the 1A Rod Domain Segment of the Keratin 9 Gene in Epidermolytic Palmoplantar Keratoderma
Author(s) -
Jum-Mo Yang,
Seewoo Lee,
H.-J. Kang,
J.-H. Lee,
Un Cheol Yeo,
I.-Y. Son,
K.-B. Park,
Peter M. Steinert,
E.-S. Lee
Publication year - 1998
Publication title -
acta dermato-venereologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.982
H-Index - 83
eISSN - 1651-2057
pISSN - 0001-5555
DOI - 10.1080/000155598442674
Subject(s) - epidermolytic hyperkeratosis , epidermolysis bullosa simplex , keratin 6a , keratin , genetics , biology , gene , palmoplantar keratoderma , mutation , keratin 5 , keratin 14 , gene mutation , microbiology and biotechnology , intermediate filament , transgene , genetically modified mouse , cytoskeleton , cell
Palmoplantar keratodermas (PPK) constitute a heterogeneous group of diseases marked by the thickening of palms and soles of affected individuals. They are divided into autosomal dominant and autosomal recessive groups by the mode of transmission. The autosomal dominantly transmitted group is further divided into epidermolytic (EPPK, Voerner) and non-epidermolytic (NEPPK, Unna-Thost) types according to the histopathologic findings. Recent development of molecular approaches has confirmed that EPPK and NEPPK are caused by the mutations in keratin 9 and 1 genes, respectively. We have studied three families of EPPK to find the mutation in the keratin 9 gene. DNA sequence analyses revealed single base changes in sequences encoding the highly conserved 1A rod domain segment of the keratin 9 gene in two of the three families. These mutations caused Arg (CGG) to Glu (CAG; R162Q) and Arg (CGG) to Try (TGG; R162W) substitutions. The same arginine position has been mutated in the keratin 10 gene in epidermolytic hyperkeratosis, the keratin 14 gene in epidermolysis bullosa simplex, and the keratin 9 gene in hereditary EPPK in Western patients. In this study we show that unrelated Korean patients have similar mutations.