Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
Palmoplantar keratoderma is a frequent hereditary disorder of keratinization in humans. Various clinically, histopathologically and genetically distinct phenotypes can be diagnosed. Recently, mutations in the keratin genes have been identified in palmoplantar keratoderma: mutations in the keratin 9 gene causing the epidermolytic form, and mutations in the keratin 1 gene in a non-epidermolytic form. We have now investigated a family with the striated form of palmoplantar keratoderma (type Brünauer-Fuhs-Siemens) for linkage to either the type II keratin gene cluster on chromosome 12q or the type I keratin gene cluster on chromosome 17q. After excluding both type I and type II keratin genes we have mapped a locus for this form of palmoplantar keratoderma to chromosome 18q12 with a maximum two-point lod score of 3.3 at theta = 0.00 at D18S536. A cluster of desmosomal cadherin genes has been mapped to this region making them good candidates for this form of PPK. These findings indicate that hyperkeratosis of palms and soles is clinically as well as genetically heterogeneous.
Hennies
H C
HC
Institute of Human Genetics, Free University Berlin, Germany.
Küster
W
W
Mischke
D
D
Reis
A
A
D001483:Base Sequence; D015820:Cadherins / Q000235:genetics; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D017931:DNA Primers; D003896:Desmosomes; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007633:Keratins / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D010375:Pedigree; D011110:Polymorphism, Genetic
D015820:Cadherins; D017931:DNA Primers; D007633:Keratins