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

Seth J. Perlman, Shashikant Kulkarni, Linda Manwaring, Marwan Shinawi

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

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 1.47Mb 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.

Original languageEnglish
Pages (from-to)711-716
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number4
DOIs
StatePublished - Apr 2013

Keywords

  • 1q44 deletion
  • AKT3
  • Agenesis of corpus callosum
  • CEP170
  • Corpus callosal abnormalities
  • ZNF238

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