Molecular and clinical heterogeneity in palmoplantar keratoderma (PPK)
- Institute for Human Genetics, Berlin (Germany); and others
Palmoplantar keratoderma (PPK) is a frequent hereditary disorder of keratinization in man. Various clinically, histopathologically, and genetically distinct phenotypes can be diagnosed. Recently, we have identified mutations in the keratin 9 gene on chromosome 17q21 in a number of patients with the epidermolytic form of palmoplantar keratoderma (EPPK). We have now investigated three large families with clinically different types of PPK for linkage to either the type II keratin gene cluster on chromosome 12q or the type I keratin gene cluster on chromosome 17q using microsatellites and polymorphisms in several keratin genes. One family each with diffuse PPK associated with carcinoma of the esophagus (type Clarke-Howel-Evans-McConnell), PPK associated with sensorineural hearing loss, and keratolytic winter erythema (Oudtshoorn skin disease) was analyzed. We were able to exclude both type I and type II keratin genes as candidate genes for all these genodermatoses. In addition, linkage to a number of further candidate regions could also be excluded in these three families; the gene for transglutaminase 1 on chromosome 14q11, chromosome 1q21 containing a cluster of genes encoding intermediate filament-associated and cell envelope-associated proteins, and chromosome 18q12 with several genes for desmosomal glycoproteins. These findings reveal that mutations in genes other than keratin genes can be involved in the etiology of hyperkeratosis of palms and soles. Thus, the clinical heterogeneity in PPK is mirrored by heterogeneity at the molecular level.
- OSTI ID:
- 134223
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0959
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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