Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster

Journal Article · Wed Sep 20 04:00:00 EDT 1995 · Genomics

DOI:https://doi.org/10.1006/geno.1995.9971· OSTI ID:258295

Hennies, H C; Reis, A ^[1]; Hagedorn, M ^[2]

---

1. Humboldt-Universitat, Berlin (Germany)
2. Municipal Hospital, Darmstadt (Germany)

Palmoplanatar keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of palmoplanatar keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited palmoplantar keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin and the type II keratin gene cluster on chromosome 12q could be excluded. In contrast, we mapped palmoplantar keratoderma in this family to chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod score Z{sub max}=5.1 at {theta}=0.00. Therefore, palmoplantar keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins. 23 refs., 2 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 258295
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 29; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CARCINOMAS
DOMINANT MUTATIONS
ESOPHAGUS
FEDERAL REPUBLIC OF GERMANY
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 17
KERATIN
PATIENTS
POLYMERASE CHAIN REACTION
SKIN DISEASES
STATISTICS