{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T05:55:38Z","timestamp":1716530138996},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Spanish Instituto de Salud Carlos III (ISCIII)"},{"name":"European Regional Development Fund (ERDF)","award":["PI10\/00063","PI14\/00790"],"award-info":[{"award-number":["PI10\/00063","PI14\/00790"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole\u2010exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, <jats:italic>in silico<\/jats:italic> and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the <jats:italic>MTO1<\/jats:italic> gene (NM_001123226:c.1510C&gt;T, p.R504C, and c.1669G&gt;A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.<\/jats:p>","DOI":"10.1111\/cge.12815","type":"journal-article","created":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T08:13:24Z","timestamp":1464941604000},"page":"46-53","source":"Crossref","is-referenced-by-count":8,"title":["The homozygous R504C mutation in <i>MTO1<\/i> gene is responsible for ONCE syndrome"],"prefix":"10.1111","volume":"91","author":[{"given":"M.\u00c1.","family":"Mart\u00edn","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"},{"name":"Laboratorio de Enfermedades Mitocondriales Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.T.","family":"Garc\u00eda\u2010Silva","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n 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