Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (MECP2). Our objective to investigate the genetic landscape of MECP2-negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES).We performed WES on 77 MECP2-negative patients either with typical RTT (n=11),...