Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings

Update item information
Publication Type Journal Article
School or College School of Medicine
Department Ophthalmology; Neurology; Human Genetics
Creator Bernstein, Paul S.; Leppert, Mark F.
Other Author Singh, Nanda; Dean, Michael; Lewis, Richard Alan; Lupski, James R.; Allikmets, Rando; Seddon, Johanna M.
Title Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings
Date 2002
Description PURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on siblings of patients with AMD who had known ABCR variants. This genetically related population provides a cohort of subjects with similar age and ethnic background for genotype-phenotype comparison to the original probands. METHODS: All available siblings of 26 probands carrying probable disease-associated ABCR variants were examined clinically. Blood samples were collected from these siblings for genotype analysis to search for the ABCR variant alleles corresponding to the isofamilial proband. RESULTS: Nineteen of 33 siblings from 15 families carried the respective proband's variant ABCR allele. Some families exhibited concordance of ABCR alleles with macular degeneration phenotype, but others did not. Exudative AMD was uncommon among both probands and siblings. CONCLUSIONS: Although population studies have indicated that some ABCR variant alleles may enhance susceptibility to AMD, investigation of the extent of ABCR involvement by kindred analysis is complicated by a plethora of environmental and other hereditary factors not investigated in the current study that may also play important roles.
Type Text
Publisher Association for Research in Vision and Ophthalmology
Volume 43
Issue 2
First Page 466
Last Page 473
Subject DNA Mutational Analysis; Nuclear Family; Phenotype
Subject MESH ATP-Binding Cassette Transporters; Macular Degeneration; Variation (Genetics)
Language eng
Bibliographic Citation Bernstein PS, Leppert M, Singh N, Dean M, Lewis RA, Lupski JR, Allikmets R, Seddon JM. (2002). Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci, 43(2), 466-73
Rights Management (c) Association for Research in Vision and Ophthalmology
Format Medium application/pdf
Identifier ir-main,1758
ARK ark:/87278/s63j3xns
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2012-06-13
ID 707493
Reference URL https://collections.lib.utah.edu/ark:/87278/s63j3xns
Back to Search Results