A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2

Eur J Hum Genet. 1997 Jul-Aug;5(4):186-90.


We report here that some patients affected by schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Brain / abnormalities*
  • Brain / pathology
  • DNA
  • Genes, Homeobox*
  • Germ-Line Mutation*
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Transcription Factors


  • Homeodomain Proteins
  • Nerve Tissue Proteins
  • Transcription Factors
  • empty spiracles homeobox proteins
  • DNA

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