en Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کوتاه Short Communication <strong>Background: </strong>Hearing loss, a congenital genetic disorder in human, is <em>difficult </em>to diagnose. Whole exome sequencing is a powerful approach for ethiological disgnosis of such disorders. <strong>Methods: </strong>One Iranian family with two patients were attented in the study. Sequencing of known non-syndromic hearing loss genes was carried out to recognize the genetic causes of HL. <strong>Results: </strong>Molecular analyses identified a novel stop loss mutation, c.1048T>G (p.Term350Glu), whitin the <em>P2RX2 </em>gene, causing a termination-site modification.This event would lead to continued translation into the 3&#39; UTR of the gene, which in turn may result in a longer protein product. The mutation was segregating with the disease phenotype and predicted to be pathogenic by bioinformatic tools. <strong>Conclusion: </strong>This study is the first Iranian case report of a diagnosis of autosomal dominant&nbsp;nonsyndromic hearing loss (ADNSHL) caused by <em>P2RX2 </em>mutation. The recognition of other causative mutations in <em>P2RX2</em> gene more supports the probable function of this gene in causing ADNSHL. Autosomal dominant 41, Deafness, Mutation, P2RX2, Whole exome sequencing 368 373 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-2256-3&slc_lang=en&sid=1 Reza Azizi Malamiri azizimalamiri_r@ajums.ac.ir 0000-0001-5423-6375 No Department of Pediatrics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Javad Mohammadi Asl mohammadiasl@gmail.com 0000-0002-1750-0541 No NoorGene Genetics Lab, Ahvaz, Iran Farideh Ghanbari Ghanbari246@gmail.com 0000-0002-9274-6592 Yes Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran