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Hanna Koskiniemi, Martin Hergersberg, Carlo Rivolta; Search For The Causative Gene Of Autosomal Recessive High Myopia And Vitreoretinal Degeneration In A Swiss Family. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1557.
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© ARVO (1962-2015); The Authors (2016-present)
In a family of Swiss origin, four out of eight siblings presented with a form of vitreoretinal degeneration and severe myopia. The aim of this study is to discover the causative gene for the disease.
Exon-capturing by Agilent SureSelect XT Human 50Mb system and Next-Generation Sequencing by an Illumina HiSeq 2000 platform in one healthy and one affected member of this family. The CLCbio Genomics Workbench software package for data analysis. Classical Sanger sequencing for validation experiments.
Previous linkage analysis identified a 12-centimorgan critical region on chromosome 22q13 containing 32 annotated genes. Prior to extending our investigations to the entire exome, we first focused our analyses on this interval. About 99% of the targeted sequences were covered, producing an average sequencing depth of 56X. We identified DNA variants in 5 genes, which were present homozygously in the patient and are currently under investigation.
The number of relevant DNA variants identified in the mapped interval indicates that a few genes could be good candidates for this disease. Further mutational screening in another cohort of patients with similar symptoms will hopefully help identifying the gene responsible for this ocular disease.
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