Comprehensive EMX2 genotyping of a large schizencephaly case series.
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.
Tietjen
Ian
I
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA.
Bodell
Adria
A
Apse
Kira
K
Mendonza
Ashley M
AM
Chang
Bernard S
BS
Shaw
Gary M
GM
Barkovich
A James
AJ
Lammer
Edward J
EJ
Walsh
Christopher A
CA
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
D017931:DNA Primers; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins