{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:51:30Z","timestamp":1787316690208,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    You\u2010Hoover\u2010Fong syndrome (YHFS) is an autosomal recessive condition caused by pathogenic variants in the\n                    <jats:italic>TELO2<\/jats:italic>\n                    gene. Affected individuals were reported to have global developmental delay, intellectual disability, microcephaly, dysmorphic facial features, ocular involvement including cortical visual impairment, strabismus, cataract and rotatory nystagmus, movement disorder, hypertonia and spasticity, balance disturbance and ataxia, and abnormal sleep pattern. Other features reported include poor growth, cleft palate, cardiac malformations, epilepsy, scoliosis, and hearing loss. To date, 12 individuals with YHFS have been reported in the literature. Here we describe 14 new individuals with YHFS from 10 families. Their clinical presentation provides additional support of the phenotype recognized previously and delineates the clinical spectrum associated with YHFS syndrome. In addition, we present a review of the literature including follow\u2010up data on four previously reported individuals with YHFS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63142","type":"journal-article","created":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T23:08:26Z","timestamp":1676588906000},"page":"1261-1272","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<i>TELO2<\/i>\n                    \u2010related syndrome (\n                    <scp>You\u2010Hoover\u2010Fong<\/scp>\n                    syndrome): Description of 14 new affected individuals and review of the literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7380-0760","authenticated-orcid":false,"given":"Daniah","family":"Albokhari","sequence":"first","affiliation":[{"name":"Department of Pediatrics Taibah University College of Medicine  Medina Saudi Arabia"},{"name":"Mckusick\u2010Nathan Department of Genetic Medicine Johns Hopkins School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0691-8985","authenticated-orcid":false,"given":"Amanda Barone","family":"Pritchard","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, C.S. Mott Children's Hospital University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelyn","family":"Beil","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, C.S. Mott Children's Hospital University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7150-4917","authenticated-orcid":false,"given":"Candace","family":"Muss","sequence":"additional","affiliation":[{"name":"Department of Genetics Nemours Children's Hospital  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4255-0396","authenticated-orcid":false,"given":"Caleb","family":"Bupp","sequence":"additional","affiliation":[{"name":"Spectrum Health, Helen Devos Children's Hospital Medical Genetics and Genomics  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7425-6322","authenticated-orcid":false,"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine, St. Louis Children's Hospital  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9189-6847","authenticated-orcid":false,"given":"Geoffroy","family":"Delplancq","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio Centre Hospitalier Universitaire de Besan\u00e7on  Besan\u00e7on France"},{"name":"Service de Neurop\u00e9diatrie Centre Hospitalier Universitaire de Besan\u00e7on  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2114-8066","authenticated-orcid":false,"given":"Jennifer","family":"Heeley","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine, St. Louis Children's Hospital  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Zuteck","sequence":"additional","affiliation":[{"name":"Spectrum Health, Helen Devos Children's Hospital Medical Genetics and Genomics  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9475-0934","authenticated-orcid":false,"given":"Michelle M.","family":"Morrow","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2814-6303","authenticated-orcid":false,"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio Centre Hospitalier Universitaire de Besan\u00e7on  Besan\u00e7on France"},{"name":"INSERM \u2013 Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9, UMR 1231 Equipe GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, FHU TRANSLAD Centre Hospitalier Universitaire Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy Blake","family":"Palculict","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1242-5626","authenticated-orcid":false,"given":"Julie E.","family":"Hoover\u2010Fong","sequence":"additional","affiliation":[{"name":"Mckusick\u2010Nathan Department of Genetic Medicine Johns Hopkins School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.2196\/16204"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104116"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2009.04.014"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.2005"},{"key":"e_1_2_10_6_1","first-page":"656","article-title":"Cataract in You\u2010Hoover\u2010Fong syndrome","volume":"41","author":"Del\u2010Prado\u2010S\u00e1nchez C.","year":"2020","journal-title":"TELO2 Deficiency"},{"key":"e_1_2_10_7_1","volume-title":"Denver II: Training manual","author":"Frankenburg W. 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