{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:41Z","timestamp":1753861781071,"version":"3.41.2"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T00:00:00Z","timestamp":1716508800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>CASK<\/jats:italic> gene and its product protein kinase have been associated with microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome and various other neurodevelopmental disorders. Clinical presentation is highly variable and generally includes intellectual disability, neurological disorders, and dysmorphic features, at a minimum. We present the case of one of the oldest known currently living patients with MICPCH syndrome with additional features not previously described in the literature (midface retrusion, macroglossia, dental crowding, adolescent\u2010onset contractures at large joints, laxity at finger joints, and prominent wrist dystonia). Progressive hypertonicity throughout the patient's life has been managed with serial botulinum toxin injections. A comprehensive multimodal care team including physiatry, physical therapy, exercise therapy, and audiology has been assisting her with hearing deficits, communication skills, and mobility. This potentially expands the phenotype of MICPCH syndrome and provides information about the management of this condition into adulthood.<\/jats:p>","DOI":"10.1002\/ajmg.a.63722","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T11:19:21Z","timestamp":1716549561000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp><i>CASK<\/i><\/scp> pathogenic variant which expands the clinical spectrum for <scp>MICPCH<\/scp> syndrome in an adult patient"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6532-832X","authenticated-orcid":false,"given":"Jack","family":"Tellerday","sequence":"first","affiliation":[{"name":"Center for Development, Behavior, and Genetics SUNY Upstate Medical University  Syracuse New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Black","sequence":"additional","affiliation":[{"name":"Center for Development, Behavior, and Genetics SUNY Upstate Medical University  Syracuse New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald C.","family":"Schuessler","sequence":"additional","affiliation":[{"name":"Community Health Center  Gouverneur, New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nienke P.","family":"Dosa","sequence":"additional","affiliation":[{"name":"Center for Development, Behavior, and Genetics SUNY Upstate Medical University  Syracuse New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Alcaraz","sequence":"additional","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert Roger","family":"Lebel","sequence":"additional","affiliation":[{"name":"Center for Development, Behavior, and Genetics SUNY Upstate Medical University  Syracuse New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-18"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoto.2013.1229"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13104-017-3065-z"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/092986706777585040"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0170843"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2011.05.022"},{"volume-title":"GeneReviews\u00ae","year":"2013","author":"Moog U.","key":"e_1_2_10_8_1"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100218"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14081656"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11071131"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.11.007"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01031"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63722","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T00:59:19Z","timestamp":1743901159000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,24]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ajmg.a.63722"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63722","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,5,24]]},"assertion":[{"value":"2023-12-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63722"}}