caa a22 4500 606183345 CHVBK 20210128100820.0 cr unu---uuuuu 210128e20150901xx s 000 0 eng 10.1007/s00405-014-3171-7 doi (NATIONALLICENCE)springer-10.1007/s00405-014-3171-7 GJB2 c.−23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss [Elektronische Daten] [Sirous Zeinali, Elham Davoudi-Dehaghani, Sarah Azadmehr, Samira DabbaghBagheri, Hamideh Bagherian, Mojdeh Jamali, Fatemeh Zafarghandimotlagh, Mahboobeh Masoodifard, Ameneh BandehiSarhaddi, Leili Rejali, Sepideh Sahebi] GJB2 mutation analysis is used routinely as a first step in genetic testing for autosomal recessive non-syndromic sensorineural hearing loss. Although most GJB2 mutations can be detected by sequencing of the exon 2 of this gene, a prevalent splice mutation, c.−23+1G>A (IVS1+1G>A), is not usually included in the analyzed region. In this study, we have developed an ARMS-PCR strategy for detection of this mutation among Iranian deaf individuals. A total of 418 Iranian individuals with hearing loss consistent with autosomal recessive non-syndromic sensorineural hearing loss based on audiological test result, medical history, physical examination and pedigree of the family, were included in this study. c.35delG and c.−23+1G>A mutations were detected by using ARMS-PCR. Direct sequencing of the exon 2 of the GJB2 gene was performed for mutation analysis of the coding region of this gene. Among 418 investigated cases, a total of 81 patients (~19.4%) with biallelic pathogenic mutations in the GJB2 gene and 13 cases with only one pathogenic mutant allele were identified. The total allele frequencies of the two most frequent mutations, c.35delG and c.−23+1G>A, among mutated alleles were found to be around 59 and 15.7%, respectively. High frequency of the c.35delG and c.−23+1G>A mutations among Iranian deaf individuals shows the importance of developing rapid and cost-effective methods for primary mutation screening methods before performing direct sequencing. Springer-Verlag Berlin Heidelberg, 2014 Deafness nationallicence GJB2 nationallicence Mutation nationallicence Autosomal recessive non-syndromic sensorineural hearing loss nationallicence c.−23+1G>A nationallicence IVS1+1G>A nationallicence ARMS-PCR nationallicence Zeinali Sirous Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran aut Davoudi-Dehaghani Elham Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran aut Azadmehr Sarah Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut DabbaghBagheri Samira Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut Bagherian Hamideh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut Jamali Mojdeh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut Zafarghandimotlagh Fatemeh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut Masoodifard Mahboobeh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut BandehiSarhaddi Ameneh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut Rejali Leili Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut Sahebi Sepideh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut European Archives of Oto-Rhino-Laryngology Springer Berlin Heidelberg 272/9(2015-09-01), 2255-2259 0937-4477 272:9<2255 2015 272 405 https://doi.org/10.1007/s00405-014-3171-7 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00405-014-3171-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Zeinali Sirous Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran aut NATIONALLICENCE 700 1- Davoudi-Dehaghani Elham Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran aut NATIONALLICENCE 700 1- Azadmehr Sarah Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- DabbaghBagheri Samira Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- Bagherian Hamideh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- Jamali Mojdeh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- Zafarghandimotlagh Fatemeh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- Masoodifard Mahboobeh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- BandehiSarhaddi Ameneh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- Rejali Leili Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 700 1- Sahebi Sepideh Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., 1595645513, Tehran, Iran aut NATIONALLICENCE 773 0- European Archives of Oto-Rhino-Laryngology Springer Berlin Heidelberg 272/9(2015-09-01), 2255-2259 0937-4477 272:9<2255 2015 272 405