Mutation in Aminoacyl Trna Synthetase 1 In Autosomal Recessive ‎Intellectual Disability ‎

Background: Intellectual disability (ID) is one of the most common neurodevelopment disorders that caused by both environment and genetic factors. Also genetic defects have involving for approximately 50% of ID etiology, it is demonstrated that genetics play significant role in ID development. The important risk factor in most country in ID is consanguinity marriage. Iran has high frequency of relative marriage (near 40 %), parental consanguinity raises the AR-ID risk about 3.6-fold. We report potential variant in a family with more than one ID living in Qazvin province (Central Iran). Objective: The aim of this study was to identify pathogenic variants in consanguineous family with more than one affected with ID in Qazvin province. Methods: We performed whole-exome sequencing (WES) on the older patient and Sanger sequencing was carried out for validation of potential causative variants in the close family. Result: A stop gain variant, p. Arg158*, in AIMP1 was identified in consanguinity family with more than one affected. Conclusion: The variant in AIMP1 produced truncated protein in the two siblings that caused developmental delay, intellectual disability, spastic paraplegia, thin corpus callosum and speech disorder.