Ontology highlight
ABSTRACT:
SUBMITTER: Lake NJ
PROVIDER: S-EPMC6661004 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Lake Nicole J NJ Formosa Luke E LE Stroud David A DA Ryan Michael T MT Calvo Sarah E SE Mootha Vamsi K VK Morar Bharti B Procopis Peter G PG Christodoulou John J Compton Alison G AG Thorburn David R DR
Human mutation 20190413 7
Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in two genes associated with Leigh syndrome; a reported pathogenic variant in PDHX (NP_003468.2:p.(Arg446*)), and an uncharacterized variant in complex I (CI) assembly factor TIMMDC1 (NP_057673.2:p.(Arg225*)). The TIMMDC1 variant was predicted to truncate 61 amino acids at the C-terminus and functi ...[more]