{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:45:41Z","timestamp":1762098341463},"reference-count":14,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T00:00:00Z","timestamp":1224028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SCO2<\/jats:italic> is a cytochrome <jats:italic>c<\/jats:italic> oxidase (COX) assembly gene. Mutations in the <jats:italic>SCO2<\/jats:italic> gene have been associated with fatal infantile cardioencephalomyopathy. We report on the phenotype of a novel <jats:italic>SCO2<\/jats:italic> mutation in two siblings with fatal infantile cardioencephalomyopathy. The index patient died of heart failure at 25 days of age. Muscle biopsy was performed for histology and biochemical study of the oxidative phosphorylation system complexes. The entire coding region of the <jats:italic>SCO2<\/jats:italic> gene was sequenced. Autopsy was performed on the index patient and on a female sibling delivered at 23 weeks of gestation following termination of pregnancy during which amniocentesis and genetic testing had been performed. Muscle biopsy and biochemical analysis of heart and skeletal muscle detected a severe isolated COX\u2010IV deficiency. Pathologic findings in both patients confirmed hypertrophic cardiomyopathy. Sequencing of the <jats:italic>SCO2<\/jats:italic> gene showed compound heterozygous mutation; the common E140K mutation and a novel W36X nonsense mutation. Newborns with a combination of hypotonia and cardiomyopathy should be evaluated for multiple congenital anomaly syndromes, inborn errors of metabolism and mitochondrial derangements, and may require extensive diagnostic testing. Mutations in the <jats:italic>SCO2<\/jats:italic> gene are a cause of prenatal\u2010onset hypertrophic cardiomyopathy. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32523","type":"journal-article","created":{"date-parts":[[2008,10,16]],"date-time":"2008-10-16T07:29:16Z","timestamp":1224142156000},"page":"2822-2827","source":"Crossref","is-referenced-by-count":23,"title":["Phenotypic consequences of a novel <i>SCO2<\/i> gene mutation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Rob M.","family":"Verdijk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"de Krijger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kees","family":"Schoonderwoerd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Tiranti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hubert","family":"Smeets","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lutgarde C.P.","family":"Govaerts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"de Coo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000190572.68191.13"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.15.10937"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000016614.47380.2f"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.795"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.8.1440"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00008.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.04.016"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2006.12.001"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/15513"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200302000-00005"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.5.862"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20466"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.6.950"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2004.tb02929.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32523","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:21:02Z","timestamp":1697620862000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,15]]},"references-count":14,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["10.1002\/ajmg.a.32523"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32523","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,15]]}}}