Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Due to long term impairment, high genetic component (heritability> 90%), lack of effective prevention and treatment, ASD has been prioritized for genetic studies. Studies on Copy Number Variations (CNV) at chromosome 16p11.2 locus have mostly been conducted in population of pure or predominant European ancestry. It is not known whether this is also prevalent among the ASD affected individuals in population of other ancestries such as Bangladeshi population. The aim of this research work is to detect CNV of SEZ6L2 gene at 16p11.2 locus and to describe the associated clinical characteristics in Bangladeshi cohort with clinically diagnosed ASD