{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T15:06:22Z","timestamp":1790003182897,"version":"4.0.1"},"reference-count":0,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,8,20]],"date-time":"2007-08-20T00:00:00Z","timestamp":1187568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (<jats:italic>PTPN11<\/jats:italic>, <jats:italic>HRAS<\/jats:italic>, <jats:italic>KRAS<\/jats:italic>, <jats:italic>BRAF<\/jats:italic>, <jats:italic>MEK1<\/jats:italic> and <jats:italic>MEK2<\/jats:italic>), involved in the mitogen\u2010activated protein kinase (MAPK) pathway, have been identified in CFC\u2013Costello\u2013Noonan patients. Coenzyme Q<jats:sub>10<\/jats:sub> (CoQ<jats:sub>10<\/jats:sub>), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ<jats:sub>10<\/jats:sub> deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ<jats:sub>10<\/jats:sub> supplementation. We report the case of a 4\u2010year\u2010old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q <jats:italic>BRAF<\/jats:italic> gene mutation, together with a muscular CoQ<jats:sub>10<\/jats:sub> deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ<jats:sub>10<\/jats:sub> treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ<jats:sub>10<\/jats:sub> biosynthesis. Another hypothesis is that K\u2010Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ<jats:sub>10<\/jats:sub> might contribute to the pathogenesis of CFC syndrome.<\/jats:p>","DOI":"10.1007\/s10545-007-0612-0","type":"journal-article","created":{"date-parts":[[2007,8,16]],"date-time":"2007-08-16T23:00:50Z","timestamp":1187305250000},"page":"827-827","source":"Crossref","is-referenced-by-count":47,"title":["Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q<sub>10<\/sub> deficiency"],"prefix":"10.1002","volume":"30","author":[{"given":"A.","family":"Aeby","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Erasme Hospital Free University of Brussels (ULB) 808 route de Lennik Brussels 1070 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Sznajer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics ULB Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Cav\u00e9","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Robert Debr\u00e9 Hospital and INSERM U9935 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Rebuffat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Saint\u2010Pierre Hospital, ULB Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Van Coster","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology UZ Gent Gent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Rigal","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Robert Debr\u00e9 Hospital, Assistance Publique \u2014 H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Van Bogaert","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Erasme Hospital Free University of Brussels (ULB) 808 route de Lennik Brussels 1070 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,8,20]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0612-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:02:23Z","timestamp":1694754143000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0612-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,20]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["10.1007\/s10545-007-0612-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0612-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,20]]}}}