In search of a novel autosomal recessive cause of non syndromic intellectual disability

Intellectual Disability is a multifactorial disease that is commonly defined by an IQ score of less than 70. It has two forms: syndromic and nonsyndromic. This study described and assessed a nonsyndromic form of ID in a Saudi family with three affected members. Several techniques were used including Autozygosity mapping, candidate gene sequencing and Exome sequencing to identify a novel nonsyndromic ID gene that follows the AR inheritance mode. Furthermore, the gene C12ORF4 was assessed using Reverse Transcription PCR, Western Blot analysis, Immunofluorescence and Whole-Mount in Situ Hybridization characterize it.;The study results revealed a frameshift insertion in C12ORF that segregate well in the three affected family members. This novel gene was added to the growing list of genes responsible for nonsyndromic ID worldwide. Of significance, this work will help to better characterize the pathogenesis of ID and perhaps provide a basis for future therapeutic intervention.