{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:40:38Z","timestamp":1758192038528,"version":"3.44.0"},"reference-count":6,"publisher":"Necmettin Erbakan University Press","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ataxia with oculomotor apraxia type 2 (AOA2) is a slowly progressive, autosomal recessive disease characterized by the triad of ataxia, oculomotor apraxia, and sensorimotor neuropathy. The genetic basis of AOA2 is biallelic mutation of the SETX gene, resulting in reduced or absent senataxin, a DNA\/RNA repair protein essential for genomic stability.<\/jats:p><jats:p>In this case report, we described a case of AOA2 with two clear pathogenic SETX mutations, one of which is novel. We then discussed two further likely \u201cin cis\u201d SETX sequence changes (previously reported in the literature as pathogenic), and presented the case that they are likely benign polymorphisms.<\/jats:p>","DOI":"10.1055\/s-0040-1713909","type":"journal-article","created":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T19:16:26Z","timestamp":1595272586000},"page":"311-314","source":"Crossref","is-referenced-by-count":1,"title":["Biallelic Mutation of SETX and Additional Likely \u201cIn Cis\u201d SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6217-3316","authenticated-orcid":false,"given":"Michael D.","family":"Perry","sequence":"additional","affiliation":[{"name":"Department of Medical Education, St George\u2019s Hospital Medical School, University of London, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-5737","authenticated-orcid":false,"given":"Martin J.","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Medical Education, St George\u2019s Hospital Medical School, University of London, London, United Kingdom"},{"name":"Department of Postgraduate Medical Education, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip J.","family":"Byrd","sequence":"additional","affiliation":[{"name":"Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7818-7595","authenticated-orcid":false,"given":"Malcolm R.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1093\/brain\/awp211","article-title":"Ataxia with oculomotor apraxia type 2: clinical, biological and genotype\/phenotype correlation study of a cohort of 90 patients","volume":"132","author":"M Anheim","year":"2009","journal-title":"Brain"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1093\/brain\/awh080","article-title":"Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients","volume":"127","author":"I Le Ber","year":"2004","journal-title":"Brain"},{"issue":"05","key":"ref3","first-page":"1320","article-title":"Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34","volume":"67","author":"A H N\u00e9meth","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng1303","article-title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2","volume":"36","author":"M C Moreira","year":"2004","journal-title":"Nat Genet"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s10048-006-0067-8","article-title":"In cis autosomal dominant mutation of senataxin associated with tremor\/ataxia syndrome","volume":"8","author":"A G Bassuk","year":"2007","journal-title":"Neurogenetics"},{"key":"ref6","first-page":"531210","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","author":"K J Karczewski","year":"2019","journal-title":"bioRxiv"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1713909.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:50Z","timestamp":1758138350000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1713909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,20]]},"references-count":6,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2021,11,22]]},"published-print":{"date-parts":[[2021,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1713909","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2020,7,20]]}}}