A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2

• Published in: European journal of human genetics : EJHG Vol. 5; no. 4; pp. 186 - 190
• Main Authors: Faiella, Antonio, Brunelli, Silvia, Granata, Tiziana, D'Incerti, Ludovico, Cardini, Roldano, Lenti, Carlo, Battaglia, Giorgio, Boncinelli, Edoardo
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland 01.07.1997
• Subjects: 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; Original Paper; Transcription Factors; Dysgenesis; Homeobox; Brain; Mutations; Cerebral cortex
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1159/000484761

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.