{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:52Z","timestamp":1753861792894,"version":"3.41.2"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000002","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":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic variants in the <jats:italic>OTUD6B<\/jats:italic> gene have been reported in the literature in association with an intellectual developmental disorder featuring dysmorphic facies, seizures, and distal limb abnormalities. Physical differences described for affected individuals suggest that the disorder may be clinically recognizable, but previous publications have reported an initial clinical suspicion for Kabuki syndrome (KS) in some affected individuals. Here, we report on three siblings with biallelic variants in <jats:italic>OTUD6B<\/jats:italic> co\u2010segregating with neurodevelopmental delay, shared physical differences, and other clinical findings similar to those of previously reported individuals. However, clinical manifestations such as long palpebral fissures, prominent and cupped ears, developmental delay, growth deficiency, persistent fetal fingertip pads, vertebral anomaly, and seizures in the proband were initially suggestive of KS. In addition, previously unreported clinical manifestations such as delayed eruption of primary dentition, soft doughy skin with reduced sweating, and mirror movements present in our patients suggest an expansion of the phenotype, and we perform a literature review to update on current information related to <jats:italic>OTUD6B<\/jats:italic> and human gene\u2010disease association.<\/jats:p>","DOI":"10.1002\/ajmg.a.63567","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T06:21:26Z","timestamp":1708669286000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic <scp><i>OTUD6B<\/i><\/scp> variants associated with a Kabuki syndrome\u2010like disorder in three siblings: A clinical report and literature review"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1472-1397","authenticated-orcid":false,"given":"Balram","family":"Gangaram","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virgina","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Child Neurology University of California  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,22]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_12_2_1","DOI":"10.1038\/s10038-021-00966-2"},{"doi-asserted-by":"publisher","key":"e_1_2_12_3_1","DOI":"10.1136\/jmedgenet-2018-105625"},{"volume-title":"GeneReviews","year":"2011","author":"Adam, M. 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