Exome Sequencing of Rett Syndrome-Like Patients Uncovers the Mutational Diversity of the Clinical Phenotype

Family-based exome sequencing was applied to a cohort of 23 mutation-negative families with daughters having clinical features strongly overlapping RETT. We searched for de novo single nucleotide variants and indels responsible of the Rett-like phenotype. In this project we included 3 control families with known RETT syndrome mutations.