TY - JOUR
T1 - Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3
AU - Ophoff, Roel A.
AU - De Young, Joseph
AU - Service, Susan K.
AU - Joosse, Marijke
AU - Caffo, Nathan A.
AU - Sandkuijl, Lodewijk A.
AU - Terwindt, Gisela M.
AU - Haan, Joost
AU - Van den Maagdenberg, Arn M.J.M.
AU - Jen, Joanna
AU - Baloh, Robert W.
AU - Barilla-LaBarca, Maria Louise
AU - Saccone, Nancy L.
AU - Atkinson, John P.
AU - Ferrari, Michel D.
AU - Freimer, Nelson B.
AU - Frants, Rune R.
N1 - Funding Information:
The authors wish to thank the family members for their participation. We thank the Dutch Migraine Genetics Research Group, in particular Esther Kors, for helpful discussions, and Frans Vermeulen, for technical assistance. We also thank Kevin Munnelly and David Dailey, from Applied Biosystems, and Alison Goate and M. Kathryn Liszewski, from the Washington University School of Medicine, for thoughtful discussions and technical assistance. The study was supported by Netherlands Organization for Scientific Research grant NWO 903-52-291, Migraine Trust grant 108, Hersenstichting grant 4F96.24, National Institute of Mental Health grant MH01375, National Institute of Neurological Disorders and Stroke grant NS37484, and National Institute on Deafness and other Communicable Disorders grants DC01404 and DC00162.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0034920305&partnerID=8YFLogxK
U2 - 10.1086/321975
DO - 10.1086/321975
M3 - Article
C2 - 11438888
AN - SCOPUS:0034920305
SN - 0002-9297
VL - 69
SP - 447
EP - 453
JO - American journal of human genetics
JF - American journal of human genetics
IS - 2
ER -