Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Publication date: Available online 29 October 2015 Source:The Lancet Neurology Author(s): Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, Christopher D Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B Hufnagel, Amy Goldstein, Yoko Narumi-Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean-François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison Goetsch, Beth Martin, Evan August Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B Dobyns, Renzo Guerrini Background Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. The causes of BPP are heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic causes of BPP and characterise their frequency in this population. Methods Children (aged ≤18 years) with polymicrogyria were enrolled into our research programme from July, 1980, to October, 2015, at two centres (Florence, Italy, and Seattle, WA, USA). We obtained samples (blood and saliva) throughout this period at both centres and did whole-exome sequencing on DNA from eight trios (two parents and one affected child) with BPP in 2014. After the identification of mosa...
Source: The Lancet Neurology - Category: Neurology Source Type: research