{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:41:05Z","timestamp":1778758865553,"version":"3.51.4"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,11,7]],"date-time":"2004-11-07T00:00:00Z","timestamp":1099785600000},"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":[[2005,6]]},"abstract":"Summary<\/jats:title>We have screened 13 patients with neurological abnormalities and 3\u2010methylglutaconic aciduria (3MGA) for mutations in the OPA3<\/jats:italic> gene, which are known to be the cause of Costeff syndrome (optic atrophy, chorea and spasticity; type III 3MGA). We aimed to explore whether mutations in the OPA3<\/jats:italic> gene are present in patients with 3MGA but without classic Costeff syndrome. OPA3<\/jats:italic> mutations (IVS1\u22121G>C) were identified in 2 patients with the classic phenotype of type III 3MGA, but not in the other 11 patients with differing non\u2010Costeff phenotypes associated with developmental delay and neurological signs and symptoms as described. We identified a previously described sequence variation in the OPA3<\/jats:italic> gene (c.231T>C) in 12\/13 patients. The alteration was homozygous in 8\/12 and heterozygous in 4\/12. This alteration was also found in 60 of 98 normal control alleles. In a single patient, a novel sequence variation in the 5\u2032\u2009UTR was identified, (c.\u221238A>G). Our studies suggest that the c.231T>C sequence variation is of no clinical significance, whereas the significance of the 5\u2032 UTR sequence variation remains open to speculation. Our study of the OPA3<\/jats:italic> gene in patients with 3MGA without Costeff syndrome suggests that mutations in OPA3<\/jats:italic> are not a common cause of 3MGA in the absence of signs of Costeff syndrome.<\/jats:p>","DOI":"10.1007\/s10545-005-0525-8","type":"journal-article","created":{"date-parts":[[2005,5,17]],"date-time":"2005-05-17T12:50:32Z","timestamp":1116334232000},"page":"525-532","source":"Crossref","is-referenced-by-count":15,"title":["OPA3<\/i> mutation screening in patients with unexplained 3\u2010methylglutaconic aciduria"],"prefix":"10.1002","volume":"28","author":[{"given":"K.","family":"Neas","sequence":"first","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Bennetts","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW"},{"name":"School of Paediatrics and Child Health University of Sydney NSW"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Carpenter","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"White","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. P.","family":"Kirk","sequence":"additional","affiliation":[{"name":"School of Women's and Children's Health University of NSW Sydney NSW Australia"},{"name":"Department of Medical Genetics Sydney Children's Hospital Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kelley","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Baric","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Center Zagreb Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW"},{"name":"School of Paediatrics and Child Health University of Sydney NSW"},{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Locked Bag 4001 Westmead NSW 2145 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,7]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0525-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0525-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:22:15Z","timestamp":1694737335000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0525-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,7]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1007\/s10545-005-0525-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0525-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,7]]}}}