Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Am J Med Genet A 2013 Apr 12;161A(4):711-6. Epub 2013 Mar 12.

Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded AKT3 and implicated ZNF238 and/or CEP170 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 de novo 1.47 Mb deletion at 1q44. The deleted interval encompasses the ZNF238 gene but not the CEP170 or AKT3 genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions.

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http://dx.doi.org/10.1002/ajmg.a.35779DOI Listing
April 2013

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