Genetic Profiling of Polymicrogyria in a South Indian Cohort

Abstract Polymicrogyria (PMG) represents a complex disorder involving malformation of the cortex. There have not been any comprehensive genetic studies of PMG from India. Here, we have done a whole-exome sequencing (WES) study of the PMG patients in a South Indian population to identify the genetic causes of PMG. The study design was descriptive. Twenty patients with PMG were recruited for the study. WES was done for all the participants. Our study identified a few potential candidate genes associated with PMG, including ROS1 , PIK3R2 , SUSD2 , NPIPB15 , RBMX , DENND4B , KRT18 , PUS1 , and TTC28 . Notably, some of these genes have been identified as having a substantial role in neurodevelopment. Some novel candidate genes of PMG were also identified in this study. The PMG-associated genes were enriched in the biological processes involved in cell adhesion, cytoskeleton organization, and nervous system development.