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July-September 2016 | Vol. 9 | Issue 3 | Page No 3-6
Schizencephaly Associated with EMX2 Mutation: A CaseReport
Manju O Pai, Divya Aggarwal, Joshi Stephen and Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
Schizencephaly is a rare human congenital disorder of the brain characterized by abnormal continuity of grey matter tissue extending from the ependymal lining of the cerebral ventricles to the pial surface of the cerebral hemisphere surface. We describe here a 7 year old boy affected with bilateral schizencephaly, born to non-consanguineous parents who presented with intellectual disability, neurologic deficits and seizure disorder. Blood samples collected from the proband and his parents were further processed for sequence analysis. He was found to be heterozygous for a de novo point mutation c.473G>A in exon 2 of the homeobox gene EMX2. This report together with the earlier reported cases of schizencephaly associated with EMX2 mutations, support the finding that at least some cases of schizencephaly are caused by deleterious mutations of this homeobox gene. This emphasises the requirement of the EMX2 protein for correct formation of the human cerebral cortex.
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