CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.

Abstract · Background: The genetics of neurodevelopmental disorders is partially investigated due to the multiple additive risk factors found to be involved. Emergence of individual genes implicated across multiple diseases suggests that they might share similar underlying driving pathways. The CNTNAP2 gene is an excellent presentation, that has been found in a variety of phenotypes. The role of CNTNAP2 is implicated in a vast number of neural and genetic networks of neurodevelopment which leads to the understanding of regulation and function of this gene. The diverse roles of CNTNAP2 can enhance our understanding of how combinations of individual genetic risk factors can contribute to the complexity of neurodevelopmental disorders. · Methods: The present study aims to investigate the role of CNTNAP2 polymorphism as a risk factor for comorbidity of Intellectual Disability and epilepsy in Pakistani population. 170 patients and 175 healthy controls took part in this study from different areas of Pakistan. Genotyping using Tetra-primer ARMS PCR technique was conducted to investigate the association between rs147815978 (G/T) and rs2710102 (A/G) of CNTNAP2 gene and intellectual disability and epilepsy co-occurrence in patients of different age groups. · Results: The genotyping data was analysed to trace the effect of CNTNAP2polymorphism on the comorbidity of ID and EPI diseases in study participants. Probability values less than 0.05 were considered significant for the association of CNTNAP2 rs147815978 and rs2710102. Results suggested a probable role of CNTNAP2 gene polymorphism predisposition to comorbidity of neurodevelopmental disorders in Pakistani population. · Conclusion: CNTNAP2 polymorphisms have a significant role in co-occurrence of NDDs due to the underlying shared molecular mechanisms causing neurodevelopment. · Trial Registration: Not Applicable for this study. Ethical approval from Ethical Review Committee of Department of Biosciences, Comsats University Islamabad campus was obtained prior to conduction of all procedures.