Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 37 3 2008 09 15 9 18 M Hashemzadeh Chaleshtori 1Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran DD Farhud Genetic Clinic, Valie Asr Sq., 16 Keshavarz Blvd., Tehran, Iran AH Crosby Dept. of Medical Genetics, St Georges Hospital Medical School, University of London, London, UK E Farrokhi Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran H Pour Jafari Dept. of Genetics, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran K Ghatreh Samani Dept. of Clinical Chemistry, Tabriz University of Medical Sciences, Tabriz, Iran K Safa Chaleshtori Shahrekord Adminstration of Education and Training, Shahrekord, Iran M Kasiri Welfare Organization of Chaharmahal va Bakhtiari, Shahrekord, Iran M Shahrani Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran GR Mobini Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran M Mansouri Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran D Modarresinia Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran M Jafari Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran 2015 10 03 Background: Mutations of GJB2 gene encoding connexion 26 are the most common cause of hearing loss in many popula­tions. A very wide spectrum of GJB2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. In this study, we have provided genetic evidence on the pathogenicity of our previ­ously reported novel GJB2 allelic variants. Methods: The pathogenic role of GJB2 allelic variants were assessed using co segregation of each allelic variant with hear­ing loss in family members, absence of the allelic variants in control populations, coexistence with a second GJB2 mutation, na­ture of the amino acid substitution and evolutionary conservation of the appropriate amino acid. Results: The GJB2 allelic variants including 363delC, 327delGGinsA, H16R and G200R have been co segregated with auto­somal recessive non syndromic hearing loss in five families and are not found in control subjects. The G130V and K102Q were found in heterozygous state in two deaf individuals. G130V results in an exchange a residue highly conserved among all the connexins but was found with a rate of 1% in control subjects and K102Q results in an exchange a residue not con­served among all the connexins and not identified in control subjects. Conclusion: We conclude that, 363delC, 327delGGinsA, H16R and G200R may be pathogenic. However, the pathogenic­ity and inheritance of K102Q and G130V can not be assessed clearly and remains to be identified. https://ijph.tums.ac.ir/index.php/ijph/article/view/2029 https://ijph.tums.ac.ir/index.php/ijph/article/download/2029/2010