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Mutations in Fe\u2010S proteins often disrupt Fe\u2010S cluster assembly leading to a spectrum of severe disorders such as Friedreich's ataxia or iron\u2010sulfur cluster assembly enzyme (ISCU) myopathy. Herein, we describe infantile mitochondrial complex <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> deficiency, a novel autosomal recessive mitochondrial disease characterized by lactic acidemia, hypotonia, respiratory chain complex <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> deficiency, multisystem organ failure and abnormal mitochondria. Through autozygosity mapping, exome sequencing, in silico analyses, population studies and functional tests, we identified c.215G&gt;A, p.Arg72Gln in <jats:italic><jats:styled-content style=\"fixed-case\">NFS<\/jats:styled-content>1<\/jats:italic> as the likely causative mutation. We describe the first disease in man likely caused by deficiency in <jats:styled-content style=\"fixed-case\">NFS<\/jats:styled-content>1, a cysteine desulfurase that is implicated in respiratory chain function and iron maintenance by initiating Fe\u2010S cluster biosynthesis. Our results further demonstrate the importance of sufficient <jats:styled-content style=\"fixed-case\">NFS<\/jats:styled-content>1 expression in human physiology.<\/jats:p>","DOI":"10.1002\/mgg3.46","type":"journal-article","created":{"date-parts":[[2013,11,18]],"date-time":"2013-11-18T14:26:03Z","timestamp":1384784763000},"page":"73-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Exome sequencing identifies <i><scp>NFS<\/scp>1<\/i> deficiency in a novel Fe\u2010S cluster disease, infantile mitochondrial complex <scp>II<\/scp>\/<scp>III<\/scp> deficiency"],"prefix":"10.1002","volume":"2","author":[{"given":"Sali M. K.","family":"Farhan","sequence":"first","affiliation":[{"name":"Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario N6A 5K8 Canada"},{"name":"Department of Biochemistry Schulich School of Medicine and Dentistry Western University London Ontario N6A 5C1 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario N6A 5K8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario N6A 5K8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piya","family":"Lahiry","sequence":"additional","affiliation":[{"name":"Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario N6A 5K8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria M.","family":"Siu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Schulich School of Medicine and Dentistry Western University London Ontario N6A 5C1 Canada"},{"name":"Medical Genetics Program Department of Pediatrics London Health Sciences Centre London Ontario N6C 2V5 Canada"},{"name":"Children's Health Research Institute London Health Sciences Centre London Ontario N6C 2V5 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Schulich School of Medicine and Dentistry Western University London Ontario N6A 5C1 Canada"},{"name":"Medical Genetics Program Department of Pediatrics London Health Sciences Centre London Ontario N6C 2V5 Canada"},{"name":"Children's Health Research Institute London Health Sciences Centre London Ontario N6C 2V5 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan B.","family":"Kronick","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children Department of Pediatrics University of Toronto Toronto Ontario M5G 1X8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Ramsay","sequence":"additional","affiliation":[{"name":"Department of Pathology London Health Sciences Centre London Ontario N6A 5A5 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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