{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:09:07Z","timestamp":1791486547960,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T00:00:00Z","timestamp":1576108800000},"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":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ZMIZ1<\/jats:italic>, zinc finger MIZ\u2010domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability\/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating autosomal dominant inheritance of a novel pathogenic <jats:italic>ZMIZ1<\/jats:italic> variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of <jats:italic>ZMIZ1<\/jats:italic>\u2010related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.<\/jats:p>","DOI":"10.1002\/ajmg.a.61446","type":"journal-article","created":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T06:45:36Z","timestamp":1576219536000},"page":"548-552","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Autosomal dominant inheritance in a recently described <i>ZMIZ1\u2010<\/i>related neurodevelopmental disorder: Case report of siblings and an affected parent"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0828-4795","authenticated-orcid":false,"given":"Kumarie","family":"Latchman","sequence":"first","affiliation":[{"name":"Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine University of Miami  Coral Gables Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madison","family":"Calder","sequence":"additional","affiliation":[{"name":"Miller School of Medicine University of Miami  Coral Gables Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayna","family":"Morel","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine University of Miami  Coral Gables Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Rhodes","sequence":"additional","affiliation":[{"name":"GeneDx, Inc. 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