Abstract
BackgroundAicardi 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 in TEAD1 and OCEL1 each 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.MethodsTo investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well‐characterized girls with Aicardi syndrome.ResultsWe did not detect the previously reported or any other deleterious variants in any of the analyzed samples.ConclusionsThis suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding.
Highlights
Aicardi syndrome (OMIM 304050) is a severe sporadic neurodevelopmental disorder that was characterized initially by a triad of signs: agenesis or dysgenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms (Aicardi et al 1965; Donnenfeld et al 1989; Aicardi 1999, 2005)
We did not detect the previously reported or any other deleterious variants in any of the analyzed samples. This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding
Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc
Summary
Aicardi syndrome (OMIM 304050) is a severe sporadic neurodevelopmental disorder that was characterized initially by a triad of signs: agenesis or dysgenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms (Aicardi et al 1965; Donnenfeld et al 1989; Aicardi 1999, 2005). Conclusions This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding.
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