Human Molecular Genetics, Vol 5, 857-860, Copyright © 1996 by Oxford University Press
DP Kelsell, JM Risk, IM Leigh, HP Stevens, A Ellis, HC Hennies, A Reis, J Weissenbach, DT Bishop, NK Spurr and JK Field
Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar
ectodermal dysplasia type III) is associated with oesophageal cancer in
three families: two large pedigrees located in Liverpool, UK and in the
midwestern American states and one smaller family from Germany. In these
families, the PPK is inherited as autosomal dominant and has a late onset,
usually manifesting between 7 and 8 years of age. The disease is
characterised by thickening of the pressure areas of the soles, but is not
restricted to the feet and also presents with oral leukokeratosis and
follicular hyperkeratosis. The disease locus [previously termed the
"tylosis oesophageal cancer gene' (TOC) locus] has been mapped to
17q23-qter by linkage analysis. This region is located telomeric to the
keratin 16 gene, in which mutations have been identified in focal PPK
families who show no increased cancer risk. We describe the close mapping
of this locus to the interval between AFMb054zf9 and D17S1603 using
haplotype analysis of additional Genethon markers in the region and show
that although the American family is unlikely to be related to either of
the other two, the UK and German pedigrees may share a common descent. This
work provides a basis for positional cloning and candidate gene analysis in
order to identify a gene that may be involved in familial oesophageal
cancer.
ARTICLES
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)
ICRF Human Genetic Resources, Clare Hall Laboratories, South Mimms, Herts., UK.
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