Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3 |
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| Authors: | Roel A Ophoff Joseph DeYoung Susan K Service Marijke Joosse Nathan A Caffo Lodewijk A Sandkuijl Gisela M Terwindt Joost Haan Arn M J M van?den?Maagdenberg Joanna Jen Robert W Baloh Maria-Louise Barilla-LaBarca Nancy L Saccone John P Atkinson Michel D Ferrari Nelson B Freimer and Rune R Frants |
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| Institution: | Departments of Human and Clinical Genetics and Neurology, Leiden University Medical Center, Leiden, The Netherlands. |
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| Abstract: | We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries. The genome search, using a high throughput capillary sequencer, revealed significant evidence of linkage to chromosome 3p21.1-p21.3 (maximum pairwise LOD score 5.25, with D3S1578). Testing of two additional families that had a similar phenotype, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke, revealed linkage to the same chromosomal region (combined maximum LOD score 6.30, with D3S1588). Haplotype analysis of all three families defined a 3-cM candidate region between D3S1578 and D3S3564. Our study shows that three autosomal dominant vasculopathy syndromes with prominent cerebroretinal manifestations map to the same 3-cM interval on 3p21, suggesting a common locus. |
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