{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:14:46Z","timestamp":1789809286823,"version":"4.0.1"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T00:00:00Z","timestamp":1647648000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T00:00:00Z","timestamp":1647648000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Of the many types of mitochondrial diseases, mutations affecting <jats:italic>BCS1L<\/jats:italic> gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic analysis and whole genome sequencing identified a novel homozygous missense mutation in exon 5 c.712A\u2009&gt;\u2009G (p.Ser328Gly) of the <jats:italic>BCS1L<\/jats:italic> gene, with predicted deleterious effects on the functioning AAA<jats:sup>+<\/jats:sup>-ATPase domain of the protein characterized by distinct clinical presentation associated with profound multisystem involvement, conductive hearing loss, absent external auditory canal, low posterior hair line, short neck, micro and retrognathia, over riding fingers, rocker bottom foot, small phallus with bilateral absent testis (empty scrotum) and intolerable lactic acidosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>A pathogenic effect of this novel <jats:italic>BCS1L<\/jats:italic> mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype.\n<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01210-2","type":"journal-article","created":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T11:02:49Z","timestamp":1647687769000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient"],"prefix":"10.1186","volume":"15","author":[{"given":"Mansour","family":"Al Qurashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Mustafa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8186-1149","authenticated-orcid":false,"given":"Syed Sameer","family":"Aga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abrar","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdellatif","family":"El-Farra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiman","family":"Shawli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al Hindi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Hasosah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,19]]},"reference":[{"key":"1210_CR1","doi-asserted-by":"publisher","first-page":"134","DOI":"10.3389\/fgene.2015.00134","volume":"6","author":"E Fern\u00e1ndez-Vizarra","year":"2015","unstructured":"Fern\u00e1ndez-Vizarra E, Zeviani M. 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The project and the study thereof were duly approved by the Institutional Ethics Committee of the King Abdullah International Medical Research Center (KAIMRC), Jeddah, Saudi Arabia.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Due written informed consent was obtained by the Department of Neonatology, King Khalid Hospital, MNGHA for publication of identifying images or other personal or clinical details from both parents of the patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare that they have no competing interest in this case report.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"63"}}