Abstract |
Keratolytic winter erythema (KWE), also known as "Oudtshoorn skin disease," or "erythrokeratolysis hiemalis," is an autosomal dominant skin disorder of unknown etiology characterized by a cyclical erythema, hyperkeratosis, and recurrent and intermittent peeling of the palms and soles, particularly during winter. Initially KWE was believed to be unique to South Africa, but recently a large pedigree of German origin has been identified. The disorder occurs with a prevalence of 1/7,000 in the South African Afrikaans-speaking Caucasoid population, and this high frequency has been attributed to founder effect. After a number of candidate regions were excluded from linkage to KWE in both the German family and several South African families, a genomewide analysis was embarked on. Linkage to the microsatellite marker D8S550 on chromosome 8p22-p23 was initially observed, with a maximum LOD score (Z(max)) of 9.2 at a maximum recombination fraction (theta(max)) of .0 in the German family. Linkage was also demonstrated in five of the larger South African families, with Z(max) = 7.4 at theta(max) = .02. When haplotypes were constructed, 11 of 14 South African KWE families had the complete "ancestral" haplotype, and 3 demonstrated conservation of parts of this haplotype, supporting the hypothesis of founder effect. The chromosome segregating with the disease in the German family demonstrated a different haplotype, suggesting that these chromosomes do not have a common origin. Recombination events place the KWE gene in a 6-cM interval between D8S550 and D8S552. If it is assumed that there was a single South African founder, a proposed ancestral recombinant suggests that the gene is most likely in a 1-cM interval between D8S550 and D8S265.
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Authors | M Starfield, H C Hennies, M Jung, T Jenkins, T Wienker, P Hull, A Spurdle, W Küster, M Ramsay, A Reis |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 61
Issue 2
Pg. 370-8
(Aug 1997)
ISSN: 0002-9297 [Print] United States |
PMID | 9311742
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Chromosome Mapping
- Chromosomes, Human, Pair 8
(genetics)
- Dermatitis, Exfoliative
(epidemiology, genetics)
- Erythema
(epidemiology, genetics)
- Female
- Founder Effect
- Genes, Dominant
- Genetic Linkage
- Germany
(epidemiology, ethnology)
- Haplotypes
- Humans
- Keratins
(genetics)
- Keratoderma, Palmoplantar
(epidemiology, genetics)
- Lod Score
- Male
- Microsatellite Repeats
- Pedigree
- Periodicity
- Seasons
- South Africa
(epidemiology)
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