Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing

Publication date: Available online 2 July 2019Source: MitochondrionAuthor(s): Paulo Victor Sgobbi de Souza, Thiago Bortholin, Carlos Alberto Castro Teixeira, Daniel Delgado Seneor, Vitor Dias Gomes Barrios Marin, Renan Braido Dias, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Luiz Henrique Libardi Silva, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Salvatore DiMauroAbstractLeigh syndrome represents a complex inherited neurometabolic and neurodegenerative disorder associated with different clinical, genetic and neuroimaging findings in the context of bilateral symmetrical lesions involving the brainstem and basal ganglia. Heterogeneous neurological manifestations such as spasticity, cerebellar ataxia, dystonia, choreoathetosis and parkinsonism are associated with multisystemic and ophthalmological abnormalities due to>75 different monogenic causes. Here, we describe the clinical and genetic features of a Brazilian cohort of patients with Leigh Syndrome in which muscle biopsy analysis showed mitochondrial DNA defects and determine the utility of whole exome sequencing for a final genetic diagnostic in this cohort.
Source: Mitochondrion - Category: Biochemistry Source Type: research