{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T02:48:30Z","timestamp":1770518910204,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Ministry of Health, Labour and Welfare of Japan"},{"name":"The Intramural Research Grant","award":["(24-8)"],"award-info":[{"award-number":["(24-8)"]}]},{"name":"CREST, Japan Science and Technology Agency (KK)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Next\u2010generation sequencing has enabled the screening for a causative mutation in X\u2010linked intellectual disability (XLID). We identified <jats:italic>KIAA2022<\/jats:italic> mutations in two unrelated male patients by targeted sequencing. We selected 13 Japanese male patients with severe intellectual disability (ID), including four sibling patients and nine sporadic patients. Two of thirteen had a <jats:italic>KIAA2022<\/jats:italic> mutation. Patient 1 was a 3\u2010year\u2010old boy. He had severe ID with autistic behavior and hypotonia. Patient 2 was a 5\u2010year\u2010old boy. He also had severe ID with autistic behavior, hypotonia, central hypothyroidism, and steroid\u2010dependent nephrotic syndrome. Both patients revealed consistent distinctive features, including upswept hair, narrow forehead, downslanting eyebrows, wide palpebral fissures, long nose, hypoplastic alae nasi, open mouth, and large ears. De novo <jats:italic>KIAA2022<\/jats:italic> mutations (p.Q705X in Patient 1, p.R322X in Patient 2) were detected by targeted sequencing and confirmed by Sanger sequencing. <jats:italic>KIAA2022<\/jats:italic> mutations and alterations have been reported in only four families with nonsyndromic ID and epilepsy. <jats:italic>KIAA2022<\/jats:italic> is highly expressed in the fetal and adult brain and plays a crucial role in neuronal development. These additional patients support the evidence that <jats:italic>KIAA2022<\/jats:italic> is a causative gene for XLID. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37002","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:55:32Z","timestamp":1429674932000},"page":"1349-1353","source":"Crossref","is-referenced-by-count":25,"title":["Delineation of the <i>KIAA2022<\/i> mutation phenotype: Two patients with X\u2010linked intellectual disability and distinctive features"],"prefix":"10.1002","volume":"167","author":[{"given":"Yukiko","family":"Kuroda","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Naruto","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumi","family":"Ida","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Enomoto","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010ichi","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahito","family":"Wada","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.021626"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2012.04.030"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.10.047"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1681\/ASN.V8111679","article-title":"Expression of beta 1\u2010integrins on activated mesangial cells in human glomerulonephritis","volume":"8","author":"Kuhara T","year":"1997","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202200"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.018"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2013.09.011"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2012.102"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt187"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.712"}],"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.37002","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37002","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:47:17Z","timestamp":1696643237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.a.37002"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37002","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}