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Case Reports
. 2019 Dec;8(4):231-234.
doi: 10.1055/s-0039-1691812. Epub 2019 May 28.

Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

Daniel Vázquez-Justes  1 , Lidia Carreño-Gago  2   3 , Elena García-Arumi  2   3   4 , Alicia Traveset  5 , Julio Montoya  6 , Eduardo Ruiz-Pesini  6 , Ricard López  7 , Luis Brieva  1
Affiliations
Case Reports

Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

Daniel Vázquez-Justes et al. J Pediatr Genet. 2019 Dec.

Abstract

This article reports a Leber hereditary optic neuropathy (LHON) case associated for the first time with mitochondrial m.13513G>A mutation. We present a 16-year-old man who complained of subacute, painless, visual loss. Ocular examination showed optic nerve atrophy, papillary pseudoedema, and optic disc pallor. Extraocular manifestations included hypertrophic myocardiopathy and myopathy. Initial genetic analysis excluded the three most common LHON mutations. Sanger sequencing of the whole mitochondrial deoxyribonucleic acid showed no mutation. Next-generation sequencing (NGS) revealed m.13513G>A mutation in the NADH dehydrogenase (ND5) subunit gene ( MT-ND5 ). The m.13513G>A mutation has never been associated with LHON phenotype without Leigh/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes features. NGS techniques should be considered when this diagnosis is strongly suspected.

Keywords: Leber hereditary optic neuropathy; next-generation sequencing; whole genome sequencing.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Sanger confirmation of the m.13513G>A.
See this image and copyright information in PMC

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