Novel candidate genes, including MIS18BP1, for Autism Spectrum Disorders identified by whole-exome sequencing in the Lebanese population. Autism Spectrum Disorders and whole-exome sequencing

Although the etiology of Autism Spectrum Disorders is not fully understood, genetic factors are considered as the leading causes. Whole-exome sequencing allows identification of genetic variations correlated with ASD such as single nucleotide variations and small insertions/deletions. The aim of this study was to explore genetic variations using WES in five Lebanese ASD subjects and their parents with negative findings of copy number variants in a previous study. After applying a stringent filtering on the initial data of the five families, three novel genes related to neurodevelopment were identified including a de novo mutation in the MIS18BP1 gene. In addition, genes already known as related to ASD contained sequence variations. Our findings outline the potential involvement of the novel de novo mutation in MIS18BP1 gene in the genetic etiology and pathophysiology of ASD and highlights the genetic complexity of these disorders. Further studies with larger cohorts of subjects are needed to confirm these observations and functional analyses need to be performed to understand the precise pathophysiology in these cases.