TUBA1A [OMIM#602529] mutations have been identified in patients with gyral malformations and are generally associated with a p>a gradient (similar to PAFAH1B1-associated lissencephaly). Of patients with cortical dysgeneses in whom DCX, PAFAH1B1 (LIS1), and ARX mutation analysis is normal, approximately 30-40% have mutations in the TUBA1A gene. Poirier et al, identified mutations in TUBA1A in 3/95 sporadic patients with non-syndromic bilateral PMG. These patients had bilateral perisylvian asymmetrical PMG with dysmorphic basal ganglia cerebellar vermian dyspasia and pontine hypoplasia.
Specimen Types Accepted