title: Comprehensive EMX2 genotyping of a large schizencephaly case series.
abstract: Schizencephaly is a brain malformation disorder characterized by one or more full-thickness clefts through the cerebral cortex. While initial reports suggested that EMX2 mutations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause of this malformation. To determine the frequency of EMX2 mutations in patients with schizencephaly, we sequenced EMX2 in a cohort of 84 affected probands. No pathologic mutations were identified in this cohort, suggesting that EMX2 mutations are an uncommon cause of schizencephaly.
authors.affiliation: Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Ian
authors.initials: I
authors.lastname: Tietjen
authors.forename: Adria
authors.initials: A
authors.lastname: Bodell
authors.forename: Kira
authors.initials: K
authors.lastname: Apse
authors.forename: Ashley M
authors.initials: AM
authors.lastname: Mendonza
authors.forename: Bernard S
authors.initials: BS
authors.lastname: Chang
authors.forename: Gary M
authors.initials: GM
authors.lastname: Shaw
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Lammer
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D002540:Cerebral Cortex / Q000473:pathology; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D017931:DNA Primers; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins