title: A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.
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.
authors.affiliation: DIBIT, Istituto Scientifico H San Raffaele, Department of Child Neurology, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Faiella
authors.forename: S
authors.initials: S
authors.lastname: Brunelli
authors.forename: T
authors.initials: T
authors.lastname: Granata
authors.forename: L
authors.initials: L
authors.lastname: D'Incerti
authors.forename: R
authors.initials: R
authors.lastname: Cardini
authors.forename: C
authors.initials: C
authors.lastname: Lenti
authors.forename: G
authors.initials: G
authors.lastname: Battaglia
authors.forename: E
authors.initials: E
authors.lastname: Boncinelli
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D004247:DNA; D005801:Genes, Homeobox; D018095:Germ-Line Mutation; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D004247:DNA; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins