AUTHOR=Barone Valentina , La Morgia Chiara , Caporali Leonardo , Fiorini Claudio , Carbonelli Michele , Gramegna Laura Ludovica , Bartiromo Fiorina , Tonon Caterina , Morandi Luca , Liguori Rocco , Petrini Aurelia , Brugnano Rachele , Del Sordo Rachele , Covarelli Carla , Morroni Manrico , Lodi Raffaele , Carelli Valerio TITLE=Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.887696 DOI=10.3389/fgene.2022.887696 ISSN=1664-8021 ABSTRACT=

Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber’s hereditary optic neuropathy (LHON). Interestingly, this specific mutation has been recently described in patients with adult-onset nephropathy. We, here, report the unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy in association with the m.13513G>A variant.