Journal article
Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma
T Zhou, E Souzeau, OM Siggs, J Landers, R Mills, I Goldberg, PR Healey, S Graham, AW Hewitt, DA Mackey, A Galanopoulos, RJ Casson, JB Ruddle, J Ellis, P Leo, MA Brown, S Macgregor, S Sharma, KP Burdon, JE Craig
Investigative Ophthalmology and Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2017
Abstract
PURPOSE. Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of individuals with advanced early-onset POAG. METHODS. The cases exhibited advanced POAG with young age of diagnosis. Cases and examined local controls were subjected to whole-exome sequencing. Nine hundred ninetythree previously sequenced exomes of Australian controls were called jointly with our dataset. Qualifying variants were selected based on predicted pathogenicity and rarity in public domain gene var..
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Awarded by Australian Research Council
Funding Acknowledgements
Supported by the National Health and Medical Research Council (NHMRC) Centres of Research Excellence scheme (APP1023911) and project grant (APP1107098). SM is supported by an Australian Research Council Future Fellowship. JEC is supported by an NHMRC Practitioner Fellowship (APP1065433).