{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:06:15Z","timestamp":1790078775250,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"vor","delay-in-days":264,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    We report a 22\u2010year\u2010old Japanese male with profound intellectual disability (IQ 16), autism spectrum disorder (ASD), and drug\u2010controlled epilepsy referred for obesity management (height 182.7\u2009cm, weight 139.7\u2009kg, and BMI 41.9\u2009kg\/m\n                    <jats:sup>2<\/jats:sup>\n                    ). Clinical features included brachycephaly, deep\u2010set eyes, prominent supraorbital ridges, bitemporal narrowing, broad nasal root, hypotonia, hyporeflexia, and sleep\u2013wake cycle disorder. Chromosomal microarray analysis (CMA) performed by SRL Inc. (Tokyo, Japan) using an Affymetrix\u2010based platform (specific array model not disclosed by the laboratory) identified a duplication at Xq25 (minimum interval: chrX:121,515,588\u2013122,689,238; maximum interval: chrX:121,468,613\u2013122,733,639; GRCh37\/hg19; arr[GRCh37] Xq25 (121,515,588_122,689,238)\u2009\u00d7\u20092) encompassing the entire\n                    <jats:italic>GRIA3<\/jats:italic>\n                    gene, classified as a variant of uncertain significance (VUS). The duplicated interval did not encompass\n                    <jats:italic>STAG2<\/jats:italic>\n                    . Parental genetic testing was declined and exome or genome sequencing was not performed; an alternative molecular diagnosis cannot be excluded. Comorbid findings included Grade 2 hypertension (161\/99\u2009mmHg), hemoglobin elevation (17.2\u2009g\/dL) possibly consistent with sleep\u2010disordered breathing (not formally evaluated), hepatic steatosis on ultrasonography, splenomegaly, and hyperuricemia. Progressive weight gain had begun at approximately 9\u2009years of age, preceding antipsychotic and antiepileptic polypharmacy by approximately 8\u2009years. Dietary and physical activity guidance without pharmacotherapy resulted in an approximately 4\u2010kg weight reduction over 4\u2009months (BMI 40.6\u2009kg\/m\n                    <jats:sup>2<\/jats:sup>\n                    ). This case describes a range of metabolic findings in a patient carrying a GRIA3 duplication.\n                  <\/jats:p>","DOI":"10.1155\/crig\/7670059","type":"journal-article","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T11:20:43Z","timestamp":1790076043000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>GRIA3<\/i>\n                    Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4064-3102","authenticated-orcid":false,"given":"Shuichi","family":"Yatsuga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,22]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad403"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2020.08.032"},{"key":"e_1_2_9_3_2","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1002\/ajmg.a.35307","article-title":"Xq25 Duplications Encompassing GRIA3 and STAG2 Genes in Two Families Convey Recognizable X-Linked Intellectual Disability With Distinctive Facial Appearance","volume":"161","author":"Philippe A.","year":"2013","journal-title":"American Journal of Medical Genetics, Part A"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00666-1"},{"key":"e_1_2_9_5_2","article-title":"X-Linked Intellectual Disability due to GRIA3 Mutations","author":"Orphanet","journal-title":"ORPHA"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31798"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32858"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1467-789x.2010.00800.x"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.2147\/ndt.s113099"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/7670059","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/7670059","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/7670059","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T11:20:44Z","timestamp":1790076044000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/7670059"}},"subtitle":[],"editor":[{"given":"Neetu","family":"Rawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/7670059"],"URL":"https:\/\/doi.org\/10.1155\/crig\/7670059","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-06-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"7670059"}}