{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Carreno-Gago L"],"funding":["Instituto de Salud Carlos III"],"pagination":["3471"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8397107"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(16)"],"pubmed_abstract":["Pathogenic variants in the mitochondrial tyrosyl-tRNA synthetase gene (YARS2) were associated with myopathy, lactic acidosis, and sideroblastic anemia (MLASA). However, patients can present mitochondrial myopathy, with exercise intolerance and muscle weakness, leading from mild to lethal phenotypes. Genes implicated in mtDNA replication were studied by Next Generation Sequencing (NGS) and whole exome sequence with the TruSeq Rapid Exome kit (Illumina, San Diego, CA, USA). Mitochondrial protein translation was studied following the Sasarman and Shoubridge protocol and oxygen consumption rates with Agilent Seahorse XF24 Analyzer Mitostress Test, (Agilent, Santa Clara, CA, USA). We report two siblings with two novel compound heterozygous pathogenic variants in YARS2 gene: a single nucleotide "],"journal":["Journal of clinical medicine"],"pubmed_title":["Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency."],"pmcid":["PMC8397107"],"funding_grant_id":["PI19/01772","PI18/00498","PI15/01428","PMP15/00025"],"pubmed_authors":["Juarez-Flores DL","Garrabou G","Carreno-Gago L","Garcia-Arumi E","Lozano E","Marti R","Vila-Julia F","Grau JM","Ramon J"],"additional_accession":[]},"is_claimable":false,"name":"Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.","description":"Pathogenic variants in the mitochondrial tyrosyl-tRNA synthetase gene (YARS2) were associated with myopathy, lactic acidosis, and sideroblastic anemia (MLASA). However, patients can present mitochondrial myopathy, with exercise intolerance and muscle weakness, leading from mild to lethal phenotypes. Genes implicated in mtDNA replication were studied by Next Generation Sequencing (NGS) and whole exome sequence with the TruSeq Rapid Exome kit (Illumina, San Diego, CA, USA). Mitochondrial protein translation was studied following the Sasarman and Shoubridge protocol and oxygen consumption rates with Agilent Seahorse XF24 Analyzer Mitostress Test, (Agilent, Santa Clara, CA, USA). We report two siblings with two novel compound heterozygous pathogenic variants in YARS2 gene: a single nucleotide ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2025-05-29T18:53:05.818Z","creation":"2022-02-11T10:03:41.389Z"},"accession":"S-EPMC8397107","cross_references":{"pubmed":["34441767"],"doi":["10.3390/jcm10163471"]}}