{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T04:15:44Z","timestamp":1778991344565,"version":"3.51.4"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,3]],"date-time":"2019-03-03T00:00:00Z","timestamp":1551571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["RSA6280001"],"award-info":[{"award-number":["RSA6280001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["DPG6180001"],"award-info":[{"award-number":["DPG6180001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Female\u2010restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)\/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss\u2010of\u2010function mutations in the <jats:italic>USP9X<\/jats:italic> gene inherited as X\u2010linked dominance were identified as its etiology in females of different ethnic groups. Here, we report a 15\u2010year\u2010old Thai girl harboring a novel <jats:italic>de novo<\/jats:italic> heterozygous one\u2010base pair deletion (c.3508delG, p.Val1170TrpfsX9) in exon 23 of <jats:italic>USP9X<\/jats:italic>. Her profound DD, dysmorphic face including attached earlobes, short stature, and congenital malformations including s\u2010shaped thoracolumbar scoliosis, hip dislocation, and generalized brain atrophy shared common characteristics of X\u2010linked syndromic ID. We have observed severely malformed oro\u2010dental organs and a choledochal cyst, which have never been reported. Our study presents the first patient from Thailand expanding the phenotypic and mutational spectra of the syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61106","type":"journal-article","created":{"date-parts":[[2019,3,4]],"date-time":"2019-03-04T04:31:48Z","timestamp":1551673908000},"page":"758-761","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Female\u2010restricted syndromic intellectual disability in a patient from Thailand"],"prefix":"10.1002","volume":"179","author":[{"given":"Thivaratana","family":"Sinthuwiwat","sequence":"first","affiliation":[{"name":"Interdisciplinary Program of Biomedical Sciences Graduate School, Chulalongkorn University  Bangkok Thailand"},{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, The Thai Red Cross Society  Bangkok Thailand"},{"name":"Cytogenetics Unit, Research and International Relations Division HRH Princess Chulabhorn College of Medical Science  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chupong","family":"Ittiwut","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, The Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0145-9801","authenticated-orcid":false,"given":"Thantrira","family":"Porntaveetus","sequence":"additional","affiliation":[{"name":"Genomics and Precision Dentistry Research Unit, Department of Physiology Faculty of Dentistry, Chulalongkorn University  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, The Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.013"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0093409"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.02.004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.015"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"}],"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.61106","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T11:39:56Z","timestamp":1694345996000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,3]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/ajmg.a.61106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61106","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,3]]},"assertion":[{"value":"2018-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}