caa a22 4500 397573723 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199608 xx s 000 0 eng 10.1093/hmg/5.8.1187 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.8.1187 Identification of a New Locus for Autosomal Dominant Non-Syndromic Hearing Impairment (DFNA7) in a Large Norwegian Family [Elektronische Daten] [T. Fagerheim, Ø. Nilssen, P. Raeymaekers, V. Brox, T. Moum, H. H. Elverland, E. Teig, H. H. Omland, G. K. Fostad, L. Tranebjærg] Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have been used to identify genes or gene locations that cause hearing impairment. The present report describes a large Norwegian family with autosomal dominant non-syndromic, progressive high tone hearing loss with linkage to 1q21-q23. A maximum LOD score of 7.65 (θ = 0.00) was obtained with the microsatellite marker D1S196. Analysis of recombinant individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104 and D1S466. The region contains several attractive candidate genes. This report supports the idea of extensive genetic heterogeneity in hereditary hearing impairment and represents the first localization of a deafness gene in a Norwegian family. © 1996 Oxford University Press Fagerheim T. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut Nilssen Ø. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut Raeymaekers P. Center of Human Genetics, University of Leuven, B-3000 Leuven, Belgium aut Brox V. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut Moum T. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut Elverland H. H. Department of Otorhinolaryngology, University Hospital of Tromsø, N-9038 Tromsø, Norway aut Teig E. Department of Otorhinolaryngology, University Hospital, N-0027 Oslo, Norway aut Omland H. H. Department of Otorhinolaryngology, Hospital of Levanger, N-7600 Levanger, Norway aut Fostad G. K. Department of Otorhinolaryngology, Hospital of Levanger, N-7600 Levanger, Norway aut Tranebjærg L. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut Human Molecular Genetics Oxford University Press 5/8(1996-08), 1187-1191 0964-6906 5:8<1187 1996 5 hmg https://doi.org/10.1093/hmg/5.8.1187 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.8.1187 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Fagerheim T. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut NATIONALLICENCE 700 1- Nilssen Ø. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut NATIONALLICENCE 700 1- Raeymaekers P. Center of Human Genetics, University of Leuven, B-3000 Leuven, Belgium aut NATIONALLICENCE 700 1- Brox V. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut NATIONALLICENCE 700 1- Moum T. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut NATIONALLICENCE 700 1- Elverland H. H. Department of Otorhinolaryngology, University Hospital of Tromsø, N-9038 Tromsø, Norway aut NATIONALLICENCE 700 1- Teig E. Department of Otorhinolaryngology, University Hospital, N-0027 Oslo, Norway aut NATIONALLICENCE 700 1- Omland H. H. Department of Otorhinolaryngology, Hospital of Levanger, N-7600 Levanger, Norway aut NATIONALLICENCE 700 1- Fostad G. K. Department of Otorhinolaryngology, Hospital of Levanger, N-7600 Levanger, Norway aut NATIONALLICENCE 700 1- Tranebjærg L. Department of Medical Genetics, University Hospital of Tromsø, N-9038 Tromsø, Norway aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/8(1996-08), 1187-1191 0964-6906 5:8<1187 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford