{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T10:51:24Z","timestamp":1777719084544,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,5,14]],"date-time":"2012-05-14T00:00:00Z","timestamp":1336953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>ARX<\/jats:italic> gene, at Xp22.3, cause several disorders, including infantile spasms, X\u2010linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability. Genotype\/phenotype studies suggested that polyalanine tract expansion is associated with non\u2010malformative phenotypes, while missense and nonsense mutations cause cerebral malformations, however, patients with structural normal brain and missense mutations have been reported. We report on a male patient born with cleft lip and palate who presented with infantile spasms and hemiplegia. MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG). Sequencing of the <jats:italic>ARX<\/jats:italic> gene in the patient identified a six basepair insertion (c.335ins6, exon 2). The insertion leads to a two\u2010residue expansion of the first polyalanine tract and was described previously in a family with non\u2010syndromic X\u2010linked mental retardation. To our knowledge, <jats:italic>ARX<\/jats:italic> mutation causing PMG and PVNH is unique, but the spasms and ACC are common in <jats:italic>ARX<\/jats:italic> mutations. Clinicians should be aware of the broad clinical range of <jats:italic>ARX<\/jats:italic> mutations, and further studies are necessary to investigate the association with PMG and PVNH and to identify possible modifying factors. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35365","type":"journal-article","created":{"date-parts":[[2012,5,14]],"date-time":"2012-05-14T17:47:29Z","timestamp":1337017649000},"page":"1472-1476","source":"Crossref","is-referenced-by-count":10,"title":["Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in <i>ARX<\/i>"],"prefix":"10.1002","volume":"158A","author":[{"given":"Renske","family":"Oegema","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anneke","family":"Maat\u2010Kievit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten H.","family":"Lequin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Schot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veerle M.H.","family":"Nanninga\u2010 van den Neste","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne E.","family":"Doornbos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie C.Y.","family":"de Wit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dicky J.","family":"Halley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia M.S.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,5,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000183747.05269.2d"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0417-07.2007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33785"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1067-08.2008"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33701"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.380"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005385"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000068012.69928.92"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10310"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/518903"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-8-25"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2011.01.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0692-z"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp107"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200408091"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr538"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00268.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0025181"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31443"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.3.348"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21288"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10714"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.009"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.002"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00256.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35365","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T14:25:29Z","timestamp":1697034329000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,14]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1002\/ajmg.a.35365"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35365","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,14]]}}}