{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:34Z","timestamp":1791327634675,"version":"4.3.1"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,6,2]],"date-time":"2011-06-02T00:00:00Z","timestamp":1306972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rhombencephalosynapsis (RES) is a rare congenital brain malformation typically identified by magnetic resonance imaging and characterized by fusion of the cerebellar hemispheres and dentate nuclei and vermian agenesis or hypogenesis. Although RES is frequently found in conjunction with other brain malformations and\/or congenital anomalies, no specific molecular etiology has been discovered to date and no animal models exist. We identified two half sisters with alobar or semi\u2010lobar holoprosencephaly (HPE) and partial RES, suggesting that genes linked to HPE may also contribute to RES. A deletion of seven base pairs in exon one of the <jats:italic>ZIC2<\/jats:italic> gene (c.392_98del7) was identified in each of the two half sisters with HPE and partial RES. To identify genetic causes of RES and to assess whether genes identified in HPE have a role in RES, we tested 11 additional individuals with RES by high\u2010resolution chromosome analysis, chromosomal microarray analysis, and sequencing of four HPE genes. No mutations in <jats:italic>ZIC2<\/jats:italic> or in other genes that cause HPE were identified, suggesting that mutation of <jats:italic>ZIC2<\/jats:italic> is a rare cause of, or contributor to, RES associated with HPE. In addition, an individual with a complex rearrangement of chromosome 22q13.3 and RES was identified, suggesting the presence of a dosage\u2010sensitive gene that may contribute to RES in this region. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34029","type":"journal-article","created":{"date-parts":[[2011,6,3]],"date-time":"2011-06-03T12:57:36Z","timestamp":1307105856000},"page":"1574-1580","source":"Crossref","is-referenced-by-count":23,"title":["Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of <i>ZIC2<\/i>"],"prefix":"10.1002","volume":"155","author":[{"given":"Melissa 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