caa a22 4500 606186182 CHVBK 20210128100835.0 cr unu---uuuuu 210128e20150801xx s 000 0 eng 10.1007/s00405-015-3523-y doi (NATIONALLICENCE)springer-10.1007/s00405-015-3523-y Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan [Elektronische Daten] [Midhat Salman, Rasheeda Bashir, Ayesha Imtiaz, Azra Maqsood, Ghulam Mujtaba, Muddassar Iqbal, Sadaf Naz] Mutations of GJB2 which encode connexin 26, contribute to 6-7% of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four sporadic cases (9.52 and 4.65%, respectively) were homozygous or compound heterozygous for p.W24X or p.W77X mutations in GJB2. These two variants are also among the most common mutations known to cause profound deafness in South Asia. The association of identical mutations with both profound and less severe phenotype of hearing loss suggests that alleles of other genes modify the phenotype due to these GJB2 nonsense mutations. Our study demonstrates that GJB2 mutations are an important contributor to aetiology of moderate to severe hearing loss in Pakistan. Springer-Verlag Berlin Heidelberg, 2015 Connexin 26 nationallicence Deafnes s nationallicence Hearing loss nationallicence GJB2 nationallicence Pakistan nationallicence Salman Midhat School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut Bashir Rasheeda School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut Imtiaz Ayesha School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut Maqsood Azra School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut Mujtaba Ghulam School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut Iqbal Muddassar School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut Naz Sadaf School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut European Archives of Oto-Rhino-Laryngology Springer Berlin Heidelberg 272/8(2015-08-01), 2071-2075 0937-4477 272:8<2071 2015 272 405 https://doi.org/10.1007/s00405-015-3523-y 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/s00405-015-3523-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Salman Midhat School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 700 1- Bashir Rasheeda School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 700 1- Imtiaz Ayesha School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 700 1- Maqsood Azra School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 700 1- Mujtaba Ghulam School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 700 1- Iqbal Muddassar School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 700 1- Naz Sadaf School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, 54590, Lahore, Pakistan aut NATIONALLICENCE 773 0- European Archives of Oto-Rhino-Laryngology Springer Berlin Heidelberg 272/8(2015-08-01), 2071-2075 0937-4477 272:8<2071 2015 272 405