Caspian Journal of Pediatrics

en Identification of New ARSA Gene Variants in a 4-Years-Old Iranian Child with Intellectual Disability; Report a Case and Literature Review تخصصي Special پژوهشي Research <div style="text-align: justify;">Background and Objective: Intellectual disability (ID) involves persistent cognitive disorders due to brain damage or incomplete development. This study aims to identification of new ARSA gene variants in a 4-years-old Iranian child with intellectual disability using whole exome sequencing. Case Report: The study was an experimental, laboratory case report at the Islamic Azad University, Marvdasht. Samples from medical centers, including a child with mental retardation, were examined genetically. Clinical evaluation, genealogy, exome sequencing, Sanger sequencing, structural modeling, and in silico analysis were conducted. Minor allele frequencies were reviewed in UCSC and Ensemble databases. Results were cross-checked with the Thousand Genomes Project, comparing findings with Iran's and global populations, excluding known polymorphisms. Data analysis was performed using Excel and IBM SPSS ver. 27 software. For the first time, a rare homozygous pathogenic variant in the ARSA gene (c.1174C>T) was identified in ID patients. The results showed that these mutations are probably responsible for the ID in this patient, because any defect in the protein encoded by the ARSA gene can lead to a disruption of the calcium channel and the lack of binding of magnesium to its receptor and excessive stimulation of neurons. Conclusion: This study provides useful information for the genetic causes of ID patients. In addition, these findings show that the ARSA gene is related to brain development. Finally, this study not only elucidates the genetic causes of ID, but also the utility of exome sequencing in identifying new variants of genes.</div> Exome Sequencing, Genetic Causes, Intellectual Disability, Iranian 0 0 http://caspianjp.ir/browse.php?a_code=A-10-337-1&slc_lang=en&sid=1 Saman Ayoubi s.ayoubi@theaasm.org 10031947532846005233 10031947532846005233 No Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran Abbas Doosti abbasdosti6@gmail.com 10031947532846005234 10031947532846005234 Yes Biotechnology Research Center, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran Azam Ahmadi Shadmehri dr.amsabi@gmail.com 10031947532846005235 10031947532846005235 No Social Welfare Organization of Razavi Khorasan Province, Mashhad, Iran. Mojtaba Jafarinia bmoshaver7@gmail.com 10031947532846005236 10031947532846005236 No Department of Biology, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran Mohsen Forouzanfar olomtaghzye@gmail.com 10031947532846005237 10031947532846005237 No Department of Biology, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran