Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute, Neringa; Majander, Anna; Bowman, Richard; Votruba, Marcela; Abbs, Stephen; Acheson, James; Lenaers, Guy; Amati-Bonneau, Patrizia; Moosajee, Mariya; Arno, Gavin; Yu-Wai-Man, Patrick

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Authors

Jurkute, Neringa

Majander, Anna

Bowman, Richard

Votruba, Marcela

Abbs, Stephen

Acheson, James

Lenaers, Guy

Publication Date

2018-08-24

Journal Title

European Journal of Human Genetics

ISSN

1018-4813

Publisher

Natue Publishing Group

Volume

Issue

Pages

494-502

Language

eng

Type

Article

This Version

Metadata

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Citation

Jurkute, N., Majander, A., Bowman, R., Votruba, M., Abbs, S., Acheson, J., Lenaers, G., et al. (2018). Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.. European Journal of Human Genetics, 27 (3), 494-502. https://doi.org/10.1038/s41431-018-0235-y

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

Keywords

DNA, Mitochondrial, Genetic Loci, Genetic Testing, Humans, Optic Atrophy, Hereditary, Leber, Sequence Analysis, DNA

Sponsorship

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.

Identifiers

External DOI: https://doi.org/10.1038/s41431-018-0235-y

This record's URL: https://www.repository.cam.ac.uk/handle/1810/292713

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