Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 161A, Issue 4, Pages 711-716Publisher
WILEY
DOI: 10.1002/ajmg.a.35779
Keywords
corpus callosal abnormalities; agenesis of corpus callosum; 1q44 deletion; CEP170; ZNF238; AKT3
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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 1q431q44 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 1.47Mb 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. (c) 2013 Wiley Periodicals, Inc.
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