{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T11:32:33Z","timestamp":1784633553427,"version":"3.55.0"},"reference-count":16,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"19","license":[{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,5,12]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>\n                                 <jats:italic toggle=\"yes\">TBL1XR1<\/jats:italic>, also known as <jats:italic toggle=\"yes\">IRA1<\/jats:italic> or <jats:italic toggle=\"yes\">TBLR1<\/jats:italic>, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H<jats:sub>2<\/jats:sub>B and H<jats:sub>4<\/jats:sub> in vitro and functions in nuclear receptor-mediated transcription. TBL1XR1 is also involved in the regulation of the Wnt\u2013\u03b2-catenin signaling pathway. Mutations in the <jats:italic toggle=\"yes\">TBL1XR1<\/jats:italic> gene impair the Wnt\u2013\u03b2-catenin signaling pathway\u2019s ability to recruit Wnt-responsive element chromatin, affecting brain development. Mutations in this gene cause various clinical phenotypes, including Pierpont syndrome, autism spectrum disorder, speech and motor delays, mental retardation, facial dysmorphism, hypotonia, microcephaly, and hearing impairment.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case Summary:<\/jats:title>\n            <jats:p>A 5-month-old female child was admitted with \u201cepisodic limb tremors for more than 1 month.\u201d At the time of admission, the child had recurrent episodes of limb tremors with motor retardation and a partially atypical and hypsarrhythmic video electroencephalogram. It was determined that a heterozygous mutation in the <jats:italic toggle=\"yes\">TBL1XR1<\/jats:italic> gene caused West syndrome and global developmental delay. Recurrent episodes persisted for 6 months following oral treatment with topiramate; the addition of oral treatment with vigabatrin did not show any significant improvement, and the disease continued to recur. The child continued to have recurrent episodes of limb tremors at follow-up until 1 year and 3 months of age. Additionally, she developed poor eye contact and a poor response to name-calling.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>We report the case of a child with West syndrome and a global developmental delay caused by a heterozygous mutation in the <jats:italic toggle=\"yes\">TBL1XR1<\/jats:italic> gene. This study adds to our understanding of the clinical phenotype of <jats:italic toggle=\"yes\">TBL1XR1<\/jats:italic> mutations and provides a realistic and reliable basis for clinicians.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/md.0000000000033744","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T14:18:22Z","timestamp":1683901102000},"page":"e33744","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report"],"prefix":"10.1097","volume":"102","author":[{"given":"Xiao-Hui","family":"Wu","sequence":"first","affiliation":[{"name":"Quanzhou Children\u2019s Hospital, Quanzhou, Fujian Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang-Zhu","family":"Lin","sequence":"additional","affiliation":[{"name":"Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen-Xian","family":"Liu","sequence":"additional","affiliation":[{"name":"Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1872-9022","authenticated-orcid":false,"given":"Yang-Fan","family":"Qi","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Qi","family":"Wang","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Yi","family":"Li","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian-Dui","family":"Chen","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu-Lu","family":"Yang","sequence":"additional","affiliation":[{"name":"Emergency Department, The Changchun Hospital of Traditional Chinese Medicine, Changchun, Jilin Province, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250504","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/S0301-472X(00)00539-7","article-title":"Identification of four human cDNAs that are differentially expressed by early hematopoietic progenitors.","volume":"28","author":"Zhang","year":"2000","journal-title":"Exp Hematol"},{"key":"R2-20250504","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S1097-2765(02)00468-9","article-title":"The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2.","volume":"9","author":"Zhang","year":"2002","journal-title":"Mol Cell"},{"key":"R3-20250504","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1002\/ajmg.a.36619","article-title":"De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.","volume":"164A","author":"Tabet","year":"2014","journal-title":"Am J Med Genet A"},{"key":"R4-20250504","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1093\/emboj\/cdg120","article-title":"Purification and functional characterization of the human N\u2010CoR complex the roles of HDAC3, TBL1 and TBLR1.","volume":"22","author":"Yoon","year":"2003","journal-title":"EMBO J"},{"key":"R5-20250504","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0092-8674(04)00133-3","article-title":"A corepressor\/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors.","volume":"116","author":"Perissi","year":"2004","journal-title":"Cell"},{"key":"R6-20250504","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1007\/s12031-020-01615-7","article-title":"Genotype and phenotype correlations for TBL1XR1 in neurodevelopmental disorders.","volume":"70","author":"Quan","year":"2020","journal-title":"J Mol Neurosci"},{"key":"R7-20250504","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.devcel.2008.02.006","article-title":"Wnt\/beta-catenin signaling: turning the switch.","volume":"14","author":"Cadigan","year":"2008","journal-title":"Dev Cell"},{"key":"R8-20250504","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1002\/ajmg.a.34147","article-title":"Pierpont syndrome: a collaborative study.","volume":"155A","author":"Wright","year":"2011","journal-title":"Am J Med Genet A"},{"key":"R9-20250504","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/jhg.2014.71","article-title":"A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.","volume":"59","author":"Saitsu","year":"2014","journal-title":"J Hum Genet"},{"key":"R10-20250504","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M","article-title":"Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA\/MR syndrome.","volume":"75","author":"Pierpont","year":"1998","journal-title":"Am J Med Genet"},{"key":"R11-20250504","doi-asserted-by":"crossref","first-page":"3547","DOI":"10.1007\/s10072-020-04600-5","article-title":"West syndrome: a comprehensive review.","volume":"41","author":"Pavone","year":"2020","journal-title":"Neurol Sci"},{"key":"R12-20250504","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1007\/s12098-020-03279-y","article-title":"Infantile spasms and West syndrome \u2013 a clinician\u2019s perspective.","volume":"87","author":"Chopra","year":"2020","journal-title":"Indian J Pediatr"},{"key":"R13-20250504","doi-asserted-by":"crossref","first-page":"106181","DOI":"10.1016\/j.eplepsyres.2019.106181","article-title":"Genetic heterogeneity in infantile spasms.","volume":"156","author":"Muir","year":"2019","journal-title":"Epilepsy Res"},{"issue":"suppl 1","key":"R14-20250504","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1542\/peds.2014-3667C","article-title":"Early identification of autism spectrum disorder: recommendations for practice and research.","volume":"136","author":"Zwaigenbaum","year":"2015","journal-title":"Pediatrics"},{"key":"R15-20250504","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1176\/appi.ajp.2012.12020276","article-title":"Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders.","volume":"169","author":"Huerta","year":"2012","journal-title":"Am J Psychiatry"},{"issue":"4 Pt 2","key":"R16-20250504","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1017\/S0954579413000710","article-title":"A quarter century of progress on the early detection and treatment of autism spectrum disorder.","volume":"25","author":"Dawson","year":"2013","journal-title":"Dev Psychopathol"}],"container-title":["Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MD.0000000000033744","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T02:25:58Z","timestamp":1746325558000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MD.0000000000033744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,12]]},"references-count":16,"journal-issue":{"issue":"19","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.1097\/md.0000000000033744","relation":{},"ISSN":["0025-7974"],"issn-type":[{"value":"0025-7974","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5,12]]}}}