Whole Exome Sequencing found a Novel Truncating Mutation within “CNTNAP2 Gene”

On behalf of the Journal of Genetic Disorders & Genetic Reports, as Editor-in-Chief, it is my distinct honor and privilege to inform you that, it’s been four long years we have started the Journal, now we are celebrating the 09^th Anniversary and we are privileged to welcome Analytical Society to our journal. As Editor-In-Chief it is my great pleasure and honor to welcome you to the Journal of Genetic Disorders & Genetic Reports.

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.

Journal of Genetic Disorders & Genetic Reports aims to disseminate knowledge and promote discussion through the publication of peer-reviewed, high quality research papers on all topics related to Genetic Disorders. The open access journal is published by OMICS International who hosts around 350 open access peer-reviewed journals as well as organizes more than 100 International scientific Conferences.

The Journal is successfully running in the 09^th Volume which covers a wide variety of specialties including Mutations and Chromosomes, Genes and DNA variations reaching out to analytical scientists worldwide. The Journal emphasizes high-level research and education. Original research articles, reviews, short communications, and letters to the editors in the fields of Genetic and separation are welcome. Every effort is made to have a speedy and critical peer-review process.

Realizing the importance of this field, OMICS Group has organized a prestigious conference on 5th International Conference on Genome Editing and Gene Therapy scheduled to be held during August 19-20, 2020 at Osaka, Japan. Under the theme ‘Young Scientist Awards at Genome Editing 2020 for the best researches in Genome Editing and Gene Therapy.’

The conference includes around 150Abstracts and 100 Keynote speakers have given their valuable words. The meet has provided a great scope for interaction of professionals including in addition to clinical experts and top-level pathologists and scientists from around the globe, on a single platform.

Media Contact:
Jessica Lopez
Editorial office
Journal of Genetic Disorders and Genetic Reports