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

Authors

  • Seth J. Perlman,

    1. Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri
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  • Shashikant Kulkarni,

    1. Departments of Pathology and Immunology, Washington University, St. Louis, Missouri
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  • Linda Manwaring,

    1. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri
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  • Marwan Shinawi M.D.

    Corresponding author
    1. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri
    • Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, One Children's Place, Northwest Tower, 9132 Campus Box 8116, St. Louis, MO 63110.
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  • How to Cite this Article: Perlman SJ, Kulkarni S, Manwaring L, Shinawi M. 2013. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. Am J Med Genet Part A 161A:711–716

Abstract

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. © 2013 Wiley Periodicals, Inc.

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