{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:10:01Z","timestamp":1791267001072,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,7]],"date-time":"2002-08-07T00:00:00Z","timestamp":1028678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two families, originally diagnosed as having nonsyndromic X\u2010linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24\u2010bp duplication (428\u201045 1dup(24bp)) in the <jats:italic>ARX<\/jats:italic> gene [Stromme et al., 2002: Nat Genet 30:441\u2013445]. This same duplication had also been found in three other families: one with X\u2010linked infantile spasms and hypsarrhythmia (X\u2010linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the <jats:italic>ARX<\/jats:italic> gene have also been found in association with the West syndrome, and a missense mutation (1058C&gt;T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib7\">2002<\/jats:ext-link>: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the <jats:italic>ARX<\/jats:italic> gene. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10714","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T22:29:21Z","timestamp":1034375361000},"page":"405-411","source":"Crossref","is-referenced-by-count":104,"title":["Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical <i>ARX<\/i> gene mutation"],"prefix":"10.1002","volume":"112","author":[{"given":"Gillian","family":"Turner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Partington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Mangelsdorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,8,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550305.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420313"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10630"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.378"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300127"},{"key":"e_1_2_5_8_1","author":"Scheffer IE","year":"2002","journal-title":"Neurology"},{"key":"e_1_2_5_9_1","first-page":"68","volume-title":"X linked mental retardation","author":"Stevenson RE","year":"2000"},{"key":"e_1_2_5_10_1","first-page":"374","article-title":"X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4\u2010Xp22.11","volume":"36","author":"Stromme P","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng862"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10714","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T13:49:15Z","timestamp":1700315355000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,7]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1002\/ajmg.10714"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10714","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,7]]}}}