title: EMX2-independent familial schizencephaly: clinical and genetic analyses.
abstract: Schizencephaly is a human brain malformation distinguished by full-thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. However, the comprehensive identification of causative genetic loci is precluded by a lack of large pedigrees and genome-wide linkage analyses. We present here a large Turkish pedigree with three individuals with schizencephaly. The similarity of clinical signs in affected individuals strongly suggests an underlying genetic cause; however, genome-wide linkage analysis rules out EMX2 linkage and instead suggests additional candidate loci. These results indicate that genetic forms of schizencephaly are likely to be heterogeneous.
authors.affiliation: Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Ian
authors.initials: I
authors.lastname: Tietjen
authors.forename: Füsun
authors.initials: F
authors.lastname: Erdogan
authors.forename: Sophie
authors.initials: S
authors.lastname: Currier
authors.forename: Kira
authors.initials: K
authors.lastname: Apse
authors.forename: Bernard S
authors.initials: BS
authors.lastname: Chang
authors.forename: R Sean
authors.initials: RS
authors.lastname: Hill
authors.forename: Christine K
authors.initials: CK
authors.lastname: Lee
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats; D009421:Nervous System Malformations / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D014157:Transcription Factors; D014421:Turkey; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins