{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T15:04:12Z","timestamp":1778857452888,"version":"3.51.4"},"reference-count":45,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T00:00:00Z","timestamp":1705795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic heterozygous loss of function variants in\n                    <jats:italic>CTNNB1<\/jats:italic>\n                    are associated with\n                    <jats:italic>CTNNB1<\/jats:italic>\n                    neurodevelopmental disorder. We report the clinical phenotype of individuals with\n                    <jats:italic>CTNNB1<\/jats:italic>\n                    neurodevelopmental disorder using both caregiver\u2010reported data (medical history, adaptive function, quality of life, and behavior issues) and in\u2010person clinical assessments (neurological, motor, and cognitive function) in 32 individuals with likely pathogenic or pathogenic\n                    <jats:italic>CTNNB1<\/jats:italic>\n                    variants. Most individuals had truncal hypotonia, muscle weakness, hypertonia, dystonia, microcephaly, and many had a history of tethered cord. Visual problems included strabismus, hyperopia, and familial exudative vitreoretinopathy. Half of individuals walked without an assistive device. The mean Gross Motor Functional Measure\u201066 score was 56.6 (SD\u2009=\u200914.8). Average time to complete Nine\u2010Hole Peg Test was slower than norms. Mean general conceptual ability composite scores from Differential Ability Scales Second Edition were very low (\n                    <jats:italic>M<\/jats:italic>\n                    \u2009=\u200958.3, SD\u2009=\u200911.3). Fifty\u2010five percent of individuals had low adaptive functioning based on the Vineland Adaptive Behavioral Scales. Based upon the Child Behavior Checklist total problems score, the majority (65%) of individuals had behavioral challenges. The mean overall Quality of Life Inventory\u2010Disability score was 81.7 (SD\u2009=\u200911.9). These data provide a detailed characterization of clinical features in individuals with\n                    <jats:italic>CTNNB1<\/jats:italic>\n                    neurodevelopmental disorder.\n                  <\/jats:p>","DOI":"10.1111\/cge.14487","type":"journal-article","created":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T02:45:58Z","timestamp":1705891558000},"page":"523-532","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Clinical phenotypic spectrum of\n                    <scp>\n                      <i>CTNNB1<\/i>\n                    <\/scp>\n                    neurodevelopmental disorder"],"prefix":"10.1111","volume":"105","author":[{"given":"Khemika K.","family":"Sudnawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Pediatrics Pramongkutklao Hospital and Pramongkutklao College of Medicine  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5000-5825","authenticated-orcid":false,"given":"Alison","family":"Garber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean","family":"Calamia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cara H.","family":"Kanner","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Regenerative Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Montes","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Regenerative Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-8902","authenticated-orcid":false,"given":"Jennifer M.","family":"Bain","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Fee","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Hospital  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,1,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.08.006"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010020\u20100695\u20101"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2023.1143328"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00006"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_7_1","volume-title":"Vineland Adaptive Behavior Scales","author":"Sparrow SS","year":"2016"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.1997.tb07414.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/s0012162206001162"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.2011.03996.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12352"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455\u2010018\u201009972\u20107"},{"key":"e_1_2_9_13_1","volume-title":"Gross motor function measure (GMFM\u201066 & GMFM\u201088) users manual","author":"Russell DJ","year":"2002"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0177965"},{"issue":"2","key":"e_1_2_9_16_1","first-page":"77","article-title":"Hand strength and dexterity","volume":"25","author":"Kellor M","year":"1971","journal-title":"Am J Occup Ther"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild\u20102014\u2010307396"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.12.052"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/s0012162205001027"},{"key":"e_1_2_9_20_1","volume-title":"Differetial Ability Scales: Introductory and Technical Handbook","author":"Elliott C","year":"2007"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/pep.0000000000000239"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/000841748505200505"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000003847"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2067"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0012\u20101606(03)00123\u20104"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010014\u20101498\u20101"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.11.008"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001688\u20106"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/jmcb\/mjt043"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/40146"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.2008.02048.x"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.3233\/PRM\u2010210034"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12290"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010023\u201005027\u20108"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.22608\/apo.201855"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.08.010"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010020\u201018723\u2010y"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13882"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.12.036"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232012564"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2003.12.001"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.yco.0000238471.84206.0a"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.637770"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10802\u2010016\u20100166\u20104"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/cns.12574"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2022.104322"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T22:20:32Z","timestamp":1712182832000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,21]]},"references-count":45,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1111\/cge.14487"],"URL":"https:\/\/doi.org\/10.1111\/cge.14487","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14487\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14487\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14487\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14487\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14487\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14487\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,21]]},"assertion":[{"value":"2023-12-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}