Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS (ital) gene and apparent locus heterogeneity

Article Abstract:

Hermansky-Pudlak syndrome (HPS) has been studied using mutation analysis of 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients. Among the Puerto Rican patients a 16-bp frameshift duplication was almost ubiquitous. It is apparently from a founder effect. Six novel HPS (ital) mutations have also been described and they define an apparent frameshift hot spot at the 321-322 codons. Mutations were found in the HPS (ital) gene in only about 50% of the non-Puerto Rican patients. Locus heterogeneity seems to likely for HPS. HPS may be the most widespread single-gene disorder in Puerto Rico, but is rare in most places other than a long-isolated village in the Swiss Alps.

United Kingdom, United States, Finland, Canada, Japan, Netherlands, France, Switzerland, Brazil, Puerto Rico, Usage, Chromosome mapping, Albinism

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A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13

Article Abstract:

The gene (EDA3) for autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) has been localized to an interval of about 9-cM between markers D2S1321 and D2S308 on chromosome 2q11-q13. The condition has affected 38 individuals through six generations of one large kindred. Twenty-one affected and 16 unaffected members of the group were studied, and 194 microsatellite markers were analyzed by pairwise linkage analysis.

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Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23

Article Abstract:

Research has mapped occurrences of Margarita Island ectodermal dysplasia (ED4) to chromosome 11q23. Linkage disequilibrium mapping and haplotype analysis further localized the ED4 locus. ED4, an autosomal recessive disorder, is typified by a wide variety of skin, teeth, hair and nail structure abnormalities, including cleft lip and palate, syndactyly and hypotrichosis.

Caribbean Region, Caribbean Islands

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