title: Independent variant analysis ofTEAD1andOCEL1in 38 Aicardi syndrome patients.
abstract: BACKGROUND
  Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants inTEAD1andOCEL1each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous.
  
  
  METHODS
  To investigate this further, we sequencedTEAD1andOCEL1coding regions using DNA from 38 clinically well-characterized girls with Aicardi syndrome.
  
  
  RESULTS
  We did not detect the previously reported or any other deleterious variants in any of the analyzed samples.
  
  
  CONCLUSIONS
  This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding.
authors.affiliation: Department of Obstetrics and GynecologyBaylor College of MedicineHoustonTexas; Jan and Dan Duncan Neurological Research InstituteTexas Children's HospitalHoustonTexas.
authors.forename: Bibiana K Y
authors.initials: BK
authors.lastname: Wong
authors.affiliation: Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
authors.forename: Vernon R
authors.initials: VR
authors.lastname: Sutton
authors.affiliation: Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Lewis
authors.affiliation: Department of Obstetrics and GynecologyBaylor College of MedicineHoustonTexas; Jan and Dan Duncan Neurological Research InstituteTexas Children's HospitalHoustonTexas; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas.
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: Van den Veyver
keywords: Aicardi syndrome; OCEL1; TEAD1; candidate genes