Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
Accepted version
Peer-reviewed
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Abstract
Inherited optic neuropathies can be caused by mitochondrial DNA (mtDNA) variants as in Leber hereditary optic neuropathy (Table 1) or by variants in nuclear-encoded genes
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Keywords
DNA, Mitochondrial, Genetic Loci, Genetic Testing, Humans, Optic Atrophy, Hereditary, Leber, Sequence Analysis, DNA
Journal Title
European Journal of Human Genetics
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Journal ISSN
1018-4813
1476-5438
1476-5438
Volume Title
27
Publisher
Natue Publishing Group
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This work was supported by the EuroGentest2 (Unit 2: “Genetic testing as part of health care”), a Coordination Action under FP7 (Grant Agreement Number 261469) and the European Society of Human Genetics. P.Y.-W.-M. is supported by a Clinician Scientist Fellowship Award (G1002570) from the Medical Research Council (MRC, UK). P.Y.-W.-M. also receives funding from Fight for Sight (UK), the UK National Institute of Health Research (NIHR) as part of the Rare Diseases Translational Research Collaboration, and the NIHR Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology. M.V.receives funding from Fight for Sight (UK), the UK National Institute of Health Research (NIHR) as part of the Rare Diseases Translational Research Collaboration and the National Eye Research Centre (NERC). MM gratefully acknowledges the support of the Wellcome Trust.