The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

DOI:https://doi.org/10.1093/hmg/3.10.1789· OSTI ID:134063

Lind, L; Holmgren, G; Lundstroem, A ^[1]

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1. Umea Univ. (Sweden)

Hereditary palmoplantar keratoderma (PPK) consists of a heterogeneous group of skin disorders characterized by hyperkeratosis (thickening of the uppermost layer of the epidermis, the stratum corneum), primarily of the palms and soles. Autosomal dominant diffuse PPK has been considered to exist in two types that are clinically similar but microscopically distinguishable: epidermolytic PPK and non-epidermolytic PPK. Recently, though, the existence of a purely hyperkeratotic PPK has been questioned. However, autosomal dominant diffuse non-epidermolytic PPK is a frequent disorder in Northern Sweden with a reported prevalence of 0.3-0.55% among school children. This Swedish variant of PPK does not show any sign of epidermolytic hyprekeratosis but instead the patients exhibit frequent dermatophyte infections, a complication rarely seen in epidermolytic PPK. We have examined two Swedish families with PPK and localized the causative genetic defect to a 14 cM interval on chromosome 12q11-q13, a region known to contain the keratin type II gene cluster as well as the retionic acid receptor {gamma} gene. The PPK variant investigated here is thus both clinically and genetically different from epidermolytic palmoplantar keratoderma which recently has been shown to result from mutations on chromosome 17q in the gene for the type I keratin 9.

• Sponsoring Organization: USDOE
• OSTI ID: 134063
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
HUMAN CHROMOSOME 17
KERATIN
PATIENTS
RECEPTORS
RETINOIC ACID
SKIN DISEASES
SWEDEN