{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T22:21:28Z","timestamp":1740176488928,"version":"3.37.3"},"reference-count":23,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in the <jats:italic>APTX<\/jats:italic> gene (c.739A&gt;T; p.Lys247*) that segregates with the phenotype. Mutations in the <jats:italic>APTX<\/jats:italic> (OMIM 606350) gene are associated with ataxia with oculomotor apraxia type 1 (OMIM 208920).<\/jats:p>","DOI":"10.1101\/mcs.a002014","type":"journal-article","created":{"date-parts":[[2017,6,27]],"date-time":"2017-06-27T16:31:04Z","timestamp":1498581064000},"page":"a002014","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a novel mutation in the <i>APTX<\/i> gene associated with ataxia-oculomotor apraxia"],"prefix":"10.1101","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8393-5853","authenticated-orcid":false,"given":"Jingga","family":"Inlora","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Reza","family":"Sailani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamidreza","family":"Khodadadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad","family":"Teymurinezhad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael P.","family":"Snyder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2017,6,26]]},"reference":[{"key":"2021112506131013000_3.6.a002014.1","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1212\/01.WNL.0000137044.06573.46","article-title":"Aprataxin gene mutations in Tunisian families","volume":"63","year":"2004","journal-title":"Neurology"},{"key":"2021112506131013000_3.6.a002014.2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.2.201"},{"key":"2021112506131013000_3.6.a002014.3","unstructured":"Bird TD . 1993. 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University of Washington, Seattle."},{"key":"2021112506131013000_3.6.a002014.6","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1002\/ana.20463","article-title":"Very late onset in ataxia oculomotor apraxia type I","volume":"57","year":"2005","journal-title":"Ann Neurol"},{"key":"2021112506131013000_3.6.a002014.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-184"},{"key":"2021112506131013000_3.6.a002014.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0374-7"},{"key":"2021112506131013000_3.6.a002014.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp359"},{"key":"2021112506131013000_3.6.a002014.10","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21078"},{"key":"2021112506131013000_3.6.a002014.11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.28"},{"key":"2021112506131013000_3.6.a002014.12","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg283"},{"key":"2021112506131013000_3.6.a002014.13","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"2021112506131013000_3.6.a002014.14","doi-asserted-by":"publisher","DOI":"10.1086\/318191"},{"key":"2021112506131013000_3.6.a002014.15","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-189"},{"key":"2021112506131013000_3.6.a002014.16","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-004-4441-0"},{"key":"2021112506131013000_3.6.a002014.17","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq033"},{"key":"2021112506131013000_3.6.a002014.18","doi-asserted-by":"crossref","first-page":"269","DOI":"10.4103\/0972-2327.112495","article-title":"Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene","volume":"16","year":"2013","journal-title":"Ann Indian Acad Neurol"},{"key":"2021112506131013000_3.6.a002014.19","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: a review","volume":"11","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"2021112506131013000_3.6.a002014.20","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M502889200"},{"key":"2021112506131013000_3.6.a002014.21","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10526"},{"key":"2021112506131013000_3.6.a002014.22","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1212\/WNL.59.4.590","article-title":"Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations","volume":"59","year":"2002","journal-title":"Neurology"},{"key":"2021112506131013000_3.6.a002014.23","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000048562.88536.A4"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a002014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:13:21Z","timestamp":1637849601000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a002014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,26]]},"references-count":23,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,11,21]]},"published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1101\/mcs.a002014"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a002014","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"type":"print","value":"2373-2865"},{"type":"electronic","value":"2373-2873"}],"subject":[],"published":{"date-parts":[[2017,6,26]]}}}