Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions1. Issue 4 (12th March 2013)

• Record Type: Journal Article
• Authors: Perlman, Seth J.; Kulkarni, Shashikant; Manwaring, Linda; Shinawi, Marwan
• Is Part Of: American journal of medical genetics. Volume 161:Issue 4(2013:Apr.)
• Page Start: 711
• Page End: 716
• Publication Date: 2013-03-12
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35779
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded <italic>AKT3</italic> and implicated <italic>ZNF238</italic> and/or <italic>CEP170</italic> as genes causative of corpus callosum anomalies in patients with 1q43–1q44 deletions. We report on a girl with dysmorphic features, seizures beginning in infancy, hypotonia, marked developmental delay, and dysgenesis of the corpus callosum. Chromosomal microarray analysis detected a <italic>de novo</italic> 1.47 Mb deletion at 1q44. The deleted interval encompasses the <italic>ZNF238</italic> gene but not the <italic>CEP170</italic> or <italic>AKT3</italic> genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions. © 2013 Wiley Periodicals, Inc.</p> </abstract>