J Pediatr Genet 2019; 08(04): 231-234
DOI: 10.1055/s-0039-1691812
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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   Department of Neurology, Hospital Universitari Arnau de Vilanova, Lleida, Spain
,
Lidia Carreño-Gago
2   Departament de Patología Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain
3   Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
,
Elena García-Arumi
2   Departament de Patología Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain
3   Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
4   Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain
,
Alicia Traveset
5   Department of Ophthalmology, Hospital Universitari Arnau de Vilanova, Lleida, Spain
,
Julio Montoya
6   Departamento de Bioquimica, Biologia Molecular y Celular, Universidad de Zaragoza, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, CIBERER, Instituto de Investigación Sanitaria de Aragón (IISAragón), Zaragoza, Spain
,
Eduardo Ruiz-Pesini
6   Departamento de Bioquimica, Biologia Molecular y Celular, Universidad de Zaragoza, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, CIBERER, Instituto de Investigación Sanitaria de Aragón (IISAragón), Zaragoza, Spain
,
Ricard López
7   Unitat de Citogenètica, Laboratori Clínic ICS, Hospital Universitari Arnau de Vilanova, Lleida, Spain
,
Luis Brieva
1   Department of Neurology, Hospital Universitari Arnau de Vilanova, Lleida, Spain
› Author Affiliations
Funding Dr. Garcia Arumi reports grants from Instituto de Salud Carlos III, during the conduct of the study. Dr. Montoya reports grants from Instituto de Salud Carlos III, grants from Departamento de Ciencia, Tecnología y Universidad del Gobierno de Aragón (Grupos Consolidados B33), and FEDER Funding Program from the European Union, during the conduct of the study.
Further Information

Publication History

01 August 2018

16 April 2019

Publication Date:
28 May 2019 (online)

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.

 
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