Case Report, J Genet Disor Genet Rep Vol: 7 Issue: 3
Whole Exome Sequencing found a Novel Truncating Mutation within CNTNAP2 Gene in an Iranian Patient with Mental Retardation
*Corresponding Author : Hajjari M
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
E-mail: [email protected]
Received: June 30, 2018 Accepted: August 21, 2018; Published: August 28, 2018
Citation: Shokoohi M, Hajjari M, Mohammadiasl J, Birgani MT (2018) Whole Exome Sequencing found a Novel Truncating Mutation within CNTNAP2 Gene in an Iranian Patient with Mental Retardation. J Genet Disor Genet Rep 7:3. doi: 10.4172/2327-5790.1000177
Intellectual disability (ID) is a major health problem mostly with an unknown etiology, affecting 1–3% of the general population. Discovering the genetic cause of these cases is dramatically challenging. Nowadays, the next-generation sequencing (NGS) technology provides advantages for the genetic diagnosis of ID. Here, by the help of Whole exome sequencing, we report an Iranian family with a child having non-syndromic ID (NS-ID) with autistic behaviors and seizure. The results revealed a novel nonsense mutation (c.3283CGA>TGA) located in an autozygous region on chromosome 7, leading to an amino acid change to terminal codon (p.Arg1095*) in CNTNAAP2. The affected child was homozygous for the mutation and his parents were heterozygous as expected in autosomal recessive inheritance. In conclusion, our study identified a novel mutation in CNTNAAP2 gene, and showed that WES provides advantages for detecting novel ID associated variants and can greatly facilitate the genetic diagnosis of the disease.