Comprehensive EMX2 genotyping of a large schizencephaly case series
- 15 May 2007
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 143A (12) , 1313-1316
- https://doi.org/10.1002/ajmg.a.31767
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.Keywords
This publication has 20 references indexed in Scilit:
- A developmental and genetic classification for malformations of cortical developmentNeurology, 2005
- Schizencephaly: Heterogeneous etiologies in a population of 4 million California birthsAmerican Journal of Medical Genetics Part A, 2005
- Emx2 : a gene responsible for cortical development, regionalization and area specificationGene, 2002
- Classification system for malformations of cortical developmentNeurology, 2001
- Schizencephaly: clinical and imaging features in 30 infantile casesBrain & Development, 2000
- Familial schizencephaly associated with EMX2 mutationNeurology, 1997
- A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2Published by Wiley ,1997
- Germline mutations in the homeobox gene EMX2 in patients with severe schizencephalyNature Genetics, 1996
- Birth defects monitoring in California: a resource for epidemiological researchPaediatric and Perinatal Epidemiology, 1991
- Brain and Ocular Abnormalities in Infants With In Utero Exposure to Cocaine and Other Street DrugsArchives of Pediatrics & Adolescent Medicine, 1991