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

Antonio Faiella, Silvia Brunelli, Tiziana Granata, Ludovico D'Incerti, Roldano Cardini, Carlo Lenti, Giorgio Battaglia, Edoardo Boncinelli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)186-190
Number of pages5
JournalEuropean Journal of Human Genetics
Volume5
Issue number4
Publication statusPublished - Jul 1997

Keywords

  • Brain
  • Cerebral cortex
  • Dysgenesis
  • Homeobox
  • Mutations

ASJC Scopus subject areas

  • Genetics(clinical)

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