Research Article

No major role for the EMX2 gene in schizencephaly†

  1. Elisa Merello1,
  2. Eric Swanson2,
  3. Patrizia De Marco1,
  4. Murtaza Akhter3,
  5. Pasquale Striano4,
  6. Andrea Rossi5,
  7. Armando Cama1,
  8. Richard J. Leventer6,
  9. Renzo Guerrini7,
  10. Valeria Capra1,
  11. William B. Dobyns2,8,9,*

Article first published online: 11 APR 2008

DOI: 10.1002/ajmg.a.32264

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 9, pages 1142–1150, 1 May 2008

Additional Information

How to Cite

Merello, E., Swanson, E., De Marco, P., Akhter, M., Striano, P., Rossi, A., Cama, A., Leventer, R. J., Guerrini, R., Capra, V. and Dobyns, W. B. (2008), No major role for the EMX2 gene in schizencephaly. American Journal of Medical Genetics Part A, 146A: 1142–1150. doi: 10.1002/ajmg.a.32264

Author Information

  1. 1

    Department of Neurosurgery, Gaslini Institute, Genoa, Italy

  2. 2

    Department of Human Genetics, The University of Chicago, Chicago, Illinois

  3. 3

    The College, The University of Chicago, Chicago, Illinois

  4. 4

    Epilepsy Center, Federico II University, Naples, Italy

  5. 5

    Department of Neuroradiology, Gaslini Institute, Genoa, Italy

  6. 6

    Department of Neurology and Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Victoria, Australia

  7. 7

    Neurology Unit and Laboratories, Pediatric Hospital A. Meyer and University of Florence, Florence, Italy

  8. 8

    Department of Neurology, The University of Chicago, Chicago, Illinois

  9. 9

    Department of Pediatrics, The University of Chicago, Chicago, Illinois

*Department of Human Genetics, University of Chicago, Room 319 CLSC, 920 E. 58th Street, Chicago, IL 60637-5415.

  1. †

    How to cite this article: Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. 2008. No major role for the EMX2 gene in schizencephaly. Am J Med Genet Part A 146A:1142–1150.

Publication History

  1. Issue published online: 21 APR 2008
  2. Article first published online: 11 APR 2008
  3. Manuscript Accepted: 15 JAN 2008
  4. Manuscript Received: 3 NOV 2007

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Keywords:

  • schizencephaly;
  • EMX2

Abstract

Schizencephaly (SCH) is a rare disorder of cerebral cortical development, characterized by full thickness clefts spanning the wall of the cerebral hemispheres that are lined and surrounded by polymicrogyric cortex. Based on pathological analysis, SCH was originally considered to have multiple causes including infectious and vascular injuries, and toxic agents. However, a few reports of familial SCH have suggested a possible genetic etiology. Ten years ago two articles identified EMX2 as the first causative gene for human SCH in 13 of 18 patients, although for several putative mutations no pathogenic role was demonstrated. Here, we reinterpret the original articles as showing a significantly lower mutational rate (17%) than originally reported (72%), and provide results of EMX2 sequencing in 39 new SCH patients, detecting no pathogenic mutations. We conclude that the reported association between SCH and EMX2 mutations is not adequately supported by current data, and that diagnostic testing of EMX2 is not justified, as any results would be uninterpretable. © 2008 Wiley-Liss, Inc.

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