{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:03:22Z","timestamp":1787166202049,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:00:00Z","timestamp":1717372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K12NS098482"],"award-info":[{"award-number":["K12NS098482"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["5K12HD028820"],"award-info":[{"award-number":["5K12HD028820"]}],"id":[{"id":"10.13039\/100000057","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":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    TANGO2 deficiency disorder (TDD) is a rare, autosomal recessive condition caused by pathogenic variants in\n                    <jats:italic>TANGO2<\/jats:italic>\n                    , a gene residing within the region commonly deleted in 22q11.2 deletion syndrome (22q11.2DS). Although patients with 22q11.2DS are at substantially higher risk for comorbid TDD, it remains underdiagnosed within 22q11.2DS, likely due to overlapping symptomatology and a lack of knowledge about TDD. Initiation of B\u2010vitamin supplementation may provide therapeutic benefit in TDD, highlighting the need for effective screening methods to improve diagnosis rates in this at\u2010risk group. In this retrospective, multicenter study, we evaluated two cohorts of patients with 22q11.2DS (total\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u2009435) for possible comorbid TDD using two different symptom\u2010based screening methods (free text\u2010mining and manual chart review versus manual chart review alone). The methodology of the cohort 1 screening method successfully identified a known 22q11.2DS patient with TDD. Combined, these two cohorts identified 21 living patients meeting the consensus recommendation for\n                    <jats:italic>TANGO2<\/jats:italic>\n                    testing for suspected comorbid TDD. Of the nine patients undergoing TANGO2 sequencing with del\/dup analysis, none were ultimately diagnosed with TDD. Of the 12 deaths in the suspected comorbid TDD cohort, some of these patients exhibited symptoms (rhabdomyolysis, cardiac arrhythmia, or metabolic crisis) suspicious of comorbid TDD contributing to their death. Collectively, these findings highlight the need for robust prospective screening tools for diagnosing comorbid TDD in patients with 22q11.2DS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63778","type":"journal-article","created":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T09:22:21Z","timestamp":1717406541000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Multicenter appraisal of comorbid\n                    <scp>TANGO2<\/scp>\n                    deficiency disorder in patients with 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"194","author":[{"given":"Laura D.","family":"Owlett","sequence":"first","affiliation":[{"name":"Department of Neurology, Division of Child Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Zapanta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetic and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Sandkuhler","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth G.","family":"Ames","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics, Metabolism &amp; Genomic Medicine University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott E.","family":"Hickey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetic and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel J.","family":"Mackenzie","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Child Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1049-8351","authenticated-orcid":false,"given":"Joshua K.","family":"Meisner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,3]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12579"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063800"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40494"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.07.010"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(72)80544-4"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2015.05.003"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-07076-9"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.009"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.008"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.85345"},{"key":"e_1_2_10_12_1","volume-title":"GeneReviews((R))","author":"McDonald\u2010McGinn D. 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