{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T13:28:09Z","timestamp":1782221289256,"version":"3.54.5"},"reference-count":25,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:p>Recently, mutations in the zinc finger MYND-type containing 11 (<jats:italic>ZMYND11<\/jats:italic>) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the <jats:italic>ZMYND11<\/jats:italic> gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian\/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar <jats:italic>ZMYND11<\/jats:italic> cases. This new case further supports the association of <jats:italic>ZMYND11<\/jats:italic> with autistic-like phenotypes and suggests that <jats:italic>ZMYND11<\/jats:italic> should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.<\/jats:p>","DOI":"10.1101\/mcs.a000851","type":"journal-article","created":{"date-parts":[[2016,7,14]],"date-time":"2016-07-14T16:28:00Z","timestamp":1468513680000},"page":"a000851","source":"Crossref","is-referenced-by-count":26,"title":["A de novo missense mutation in <i>ZMYND11<\/i> is associated with global developmental delay, seizures, and hypotonia"],"prefix":"10.1101","volume":"2","author":[{"given":"Abby M.","family":"Moskowitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Newell","family":"Belnap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley L.","family":"Siniard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szabolcs","family":"Szelinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana M.","family":"Claasen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan F.","family":"Richholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"De Both","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason J.","family":"Corneveaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Balak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignazio S.","family":"Piras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda L.","family":"Courtright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sampath","family":"Rangasamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keri","family":"Ramsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinodh","family":"Narayanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt J.","family":"Huentelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2016,7,13]]},"reference":[{"key":"2021112506104354000_2.5.a000851.1","doi-asserted-by":"crossref","unstructured":"Adzhubei I , Jordan DM , Sunyaev SR . 2013. 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