{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T23:46:46Z","timestamp":1776124006274,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T00:00:00Z","timestamp":1447718400000},"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":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in the <jats:italic>KIAA2022<\/jats:italic> gene have been implicated in non\u2010syndromic X\u2010linked intellectual disability. Thus far, all carrier females reported have been unaffected and genotype\u2013phenotype correlations have not been described. Herein, we report a de novo <jats:italic>KIAA2022<\/jats:italic> nonsense mutation in a 17\u2010year\u2010old female with short stature, microcephaly, severe intellectual disability, poor speech, epilepsy, and autistic behavior. X\u2010inactivation pattern is normal suggesting that the mutation is causing the phenotype. This report contests the current view that <jats:italic>KIAA2022<\/jats:italic> mutations only affect males, which has implications for testing and genetic counseling. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37479","type":"journal-article","created":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T05:48:43Z","timestamp":1447739323000},"page":"703-706","source":"Crossref","is-referenced-by-count":25,"title":["<i>KIAA2022<\/i> nonsense mutation in a symptomatic female"],"prefix":"10.1002","volume":"170","author":[{"given":"Laura S.","family":"Farach","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Texas Medical School at Houston Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Texas Medical School at Houston Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,11,17]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2009.06.001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.021626"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02383.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30123"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37002"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-15398"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt187"}],"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.37479","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T02:00:04Z","timestamp":1696644004000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,17]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1002\/ajmg.a.37479"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37479","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,17]]}}}