title: Identification of a potential susceptibility locus for macular telangiectasia type 2.
abstract: Macular Telangiectasia type 2 (MacTel) is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals (including 45 affected or possibly affected) were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analysis identified a single peak with multi-point LOD score of 3.45 on chromosome 1 at 1q41-42 under a dominant model. Recombination mapping defined a minimal candidate region of 15.6 Mb, from 214.32 (rs1579634; 219.96 cM) to 229.92 Mb (rs7542797; 235.07 cM), encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees.
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York, United States of America.
authors.forename: Nancy L
authors.initials: NL
authors.lastname: Parmalee
authors.forename: Carl
authors.initials: C
authors.lastname: Schubert
authors.forename: Maria
authors.initials: M
authors.lastname: Figueroa
authors.forename: Alan C
authors.initials: AC
authors.lastname: Bird
authors.forename: Tunde
authors.initials: T
authors.lastname: Peto
authors.forename: Mark C
authors.initials: MC
authors.lastname: Gillies
authors.forename: Paul S
authors.initials: PS
authors.lastname: Bernstein
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Kiryluk
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Terwilliger
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
mesh_terms: D015331:Cohort Studies; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D011995:Recombination, Genetic; D017422:Sequence Analysis, DNA; D014786:Vision Disorders / Q000235:genetics*