Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC )

David P. Kelsell, Janet M. Risk, Irene M. Leigh, Howard P. Stevens, Anthony Ellis, Hans C. Hennies, André Reis, Jean Weissenbach, D. Timothy Bishop, Nigel K. Spurr, John K. Field

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)857-860
Number of pages4
JournalHuman Molecular Genetics
Volume5
Issue number6
DOIs
Publication statusPublished - 1 Jun 1996
Externally publishedYes

Fingerprint

Neoplasm Genes
Esophageal Neoplasms
Palmoplantar Keratoderma
Pedigree
Keratoderma, Palmoplantar, Diffuse
Keratin-16
Oral Leukoplakia
Ectodermal Dysplasia
Genetic Association Studies
Haplotypes
Genes
Germany
Foot
Organism Cloning
Pressure
Mutation
Keratosis palmoplantaris with esophageal cancer
Hyperkeratosis of the palms and soles and esophageal papillomas
Neoplasms

Cite this

Kelsell, David P. ; Risk, Janet M. ; Leigh, Irene M. ; Stevens, Howard P. ; Ellis, Anthony ; Hennies, Hans C. ; Reis, André ; Weissenbach, Jean ; Bishop, D. Timothy ; Spurr, Nigel K. ; Field, John K. / Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC ). In: Human Molecular Genetics. 1996 ; Vol. 5, No. 6. pp. 857-860.
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abstract = "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.",
author = "Kelsell, {David P.} and Risk, {Janet M.} and Leigh, {Irene M.} and Stevens, {Howard P.} and Anthony Ellis and Hennies, {Hans C.} and Andr{\'e} Reis and Jean Weissenbach and Bishop, {D. Timothy} and Spurr, {Nigel K.} and Field, {John K.}",
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Kelsell, DP, Risk, JM, Leigh, IM, Stevens, HP, Ellis, A, Hennies, HC, Reis, A, Weissenbach, J, Bishop, DT, Spurr, NK & Field, JK 1996, 'Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC )', Human Molecular Genetics, vol. 5, no. 6, pp. 857-860. https://doi.org/10.1093/hmg/5.6.857

Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC ). / Kelsell, David P.; Risk, Janet M.; Leigh, Irene M.; Stevens, Howard P.; Ellis, Anthony; Hennies, Hans C.; Reis, André; Weissenbach, Jean; Bishop, D. Timothy; Spurr, Nigel K.; Field, John K.

In: Human Molecular Genetics, Vol. 5, No. 6, 01.06.1996, p. 857-860.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC )

AU - Kelsell, David P.

AU - Risk, Janet M.

AU - Leigh, Irene M.

AU - Stevens, Howard P.

AU - Ellis, Anthony

AU - Hennies, Hans C.

AU - Reis, André

AU - Weissenbach, Jean

AU - Bishop, D. Timothy

AU - Spurr, Nigel K.

AU - Field, John K.

PY - 1996/6/1

Y1 - 1996/6/1

N2 - 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.

AB - 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.

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