{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T23:06:15Z","timestamp":1783983975319,"version":"3.55.0"},"reference-count":20,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>ARX (Aristaless-related homeobox gene) is located at Xp22. It contains 5 exons and encodes a 562\u2014amino acid protein. The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation. The most common mutation in ARX (seen in X-linked infantile spasms syndrome, Partington syndrome, and X-linked mental retardation) is a 24-bp duplication in exon 2 resulting in expansion of a polyalanine tract. Truncating mutations (deletions, frameshift, non-sense) have been found in X-linked lissencephaly with abnormal genitalia, as well as homeodomain missense mutations in X-linked myoclonus epilepsy with spasticity and intellectual disability. The authors report a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation and review the spectrum of ARX mutations. This mutation results in a contraction of the second polyalanine repeat.<\/jats:p>","DOI":"10.1177\/0883073807304000","type":"journal-article","created":{"date-parts":[[2007,7,19]],"date-time":"2007-07-19T17:03:12Z","timestamp":1184864592000},"page":"744-748","source":"Crossref","is-referenced-by-count":12,"title":["A Novel Mutation of the ARX Gene in a Male With Nonsyndromic Mental Retardation"],"prefix":"10.1177","volume":"22","author":[{"given":"Matthew M.","family":"Troester","sequence":"first","affiliation":[{"name":"Children's Health Center, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute Phoenix, Arizona."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Trachtenberg","sequence":"additional","affiliation":[{"name":"Children's Health Center, St. Joseph's Hospital and Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinodh","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Children's Health Center, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute Phoenix, Arizona,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2007,6,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1038\/ng862"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00126-9"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1017\/S001216220500023X"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10310"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360216"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<331::AID-AJMG7>3.0.CO;2-P"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<174::AID-AJMG11>3.0.CO;2-O"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10119"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07949.x"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1038\/ng862"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430169"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300127"},{"key":"atypb13","first-page":"228","volume":"13","author":"Partington MW","year":"2002","journal-title":"Genet Couns"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.3.348"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(03)00113-6"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201247"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"atypb18","first-page":"16","volume":"6","author":"Stepp ML","year":"2005","journal-title":"Med Genet."},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201222"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00434.x"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807304000","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807304000","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:34:06Z","timestamp":1777494846000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073807304000"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["10.1177\/0883073807304000"],"URL":"https:\/\/doi.org\/10.1177\/0883073807304000","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}