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J. H. Fingert, A. L. Robin, J. L. Stone, T. E. Scheetz, T. L. Casavant, T. H. Wassink, W. L. M. Alward, V. C. Sheffield, E. M. Stone; Identification of a Novel Glaucoma Locus. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2159.
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To map the chromosomal locus of a novel open angle glaucoma gene.
A large three-generation pedigree was enrolled in our study and each family member received a complete eye examination by one of the authors. Family members diagnosed with glaucoma were studied with linkage analysis and copy number variation analysis using microarrays of SNP markers.
Ten members of the family were diagnosed with open angle glaucoma. The pattern of inheritance in the family is consistent with an autosomal dominant form of glaucoma. Linkage analysis of these family members mapped the gene that causes glaucoma in the family to a 17 Mbp region of chromosome 12 (Max NPL score = 19.83). Further examination of SNP markers within the linked region identified a 700 Kbp duplication in all affected family members. This duplication was not detected in a cohort of 100 normal subjects nor was it previously reported in publicly available databases.
We have identified a large autosomal dominant glaucoma pedigree. Linkage analysis and copy number analysis of this pedigree identified a locus on chromosome 12 that contains a novel glaucoma gene. It is likely that the glaucoma gene in this locus lies within or near the 700 Kbp duplication. This discovery is the first step in the identification of a novel glaucoma-causing gene and to our knowledge is the first report of a copy number variation in an open angle glaucoma locus.
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