GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland
Objective: Investigate genetic causes of HI among the Inuit populations in the Arctic with a high prevalence of hearing impairment (HI). Design: A cross-sectional survey with population-based controls. Study sample: Forty-five patients, with sensorineural or mixed HI and an available blood sample fo...
Published in: | International Journal of Audiology |
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Language: | English |
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2012
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Online Access: | https://portal.findresearcher.sdu.dk/da/publications/a8178cb6-66ad-4837-8835-461717782bf2 https://doi.org/10.3109/14992027.2012.660575 |
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ftsydanskunivpub:oai:sdu.dk:publications/a8178cb6-66ad-4837-8835-461717782bf2 2023-05-15T15:07:02+02:00 GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland Homoe, P. Koch, A. Rendtorff, Nanna Dahl Lodahl, Marianne Andersen, T. Andersen, S. Eiberg, H. Nielsen, I. M. Tranebjaerg, L. 2012 https://portal.findresearcher.sdu.dk/da/publications/a8178cb6-66ad-4837-8835-461717782bf2 https://doi.org/10.3109/14992027.2012.660575 eng eng info:eu-repo/semantics/restrictedAccess Homoe , P , Koch , A , Rendtorff , N D , Lodahl , M , Andersen , T , Andersen , S , Eiberg , H , Nielsen , I M & Tranebjaerg , L 2012 , ' GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland ' , International Journal of Audiology , vol. 51 , no. 6 , pp. 433-436 . https://doi.org/10.3109/14992027.2012.660575 article 2012 ftsydanskunivpub https://doi.org/10.3109/14992027.2012.660575 2022-08-14T08:48:54Z Objective: Investigate genetic causes of HI among the Inuit populations in the Arctic with a high prevalence of hearing impairment (HI). Design: A cross-sectional survey with population-based controls. Study sample: Forty-five patients, with sensorineural or mixed HI and an available blood sample for GJB2 sequencing from DNA, were selected from 166 East Greenlanders by specialist audiology examination, including pure-tone air and bone conduction audiometry from 125 Hz to 8000 Hz. Controls were 108 East- and 109 West-Greenlanders. Results: Forty-five patients with HI were included, 24 males and 21 females. Median age was 35 years (range: 5-76). The c.35delG allele frequency was 3.3%. One patient, homozygous for the c.35delG GJB2 mutation, had bilateral congenital profound HI. Another with mixed HI was heterozygous for the same mutation. Three were heterozygous for the p.V27I variant and one was heterozygous for the p.V153I variant. The frequency of the c.35delG mutation in the controls varied between 0.5% in West Greenland to 2.3% in East Greenland. Conclusion: The c. 35delG GJB2 mutation occurs in Greenland with low frequency. We conclude the main causes behind the prevalence of HI in this population are chronic otitis media, noise traumas, and/or unidentified genetic causes. Article in Journal/Newspaper Arctic East Greenland Greenland greenlander* inuit University of Southern Denmark Research Portal Arctic Greenland International Journal of Audiology 51 6 433 436 |
institution |
Open Polar |
collection |
University of Southern Denmark Research Portal |
op_collection_id |
ftsydanskunivpub |
language |
English |
description |
Objective: Investigate genetic causes of HI among the Inuit populations in the Arctic with a high prevalence of hearing impairment (HI). Design: A cross-sectional survey with population-based controls. Study sample: Forty-five patients, with sensorineural or mixed HI and an available blood sample for GJB2 sequencing from DNA, were selected from 166 East Greenlanders by specialist audiology examination, including pure-tone air and bone conduction audiometry from 125 Hz to 8000 Hz. Controls were 108 East- and 109 West-Greenlanders. Results: Forty-five patients with HI were included, 24 males and 21 females. Median age was 35 years (range: 5-76). The c.35delG allele frequency was 3.3%. One patient, homozygous for the c.35delG GJB2 mutation, had bilateral congenital profound HI. Another with mixed HI was heterozygous for the same mutation. Three were heterozygous for the p.V27I variant and one was heterozygous for the p.V153I variant. The frequency of the c.35delG mutation in the controls varied between 0.5% in West Greenland to 2.3% in East Greenland. Conclusion: The c. 35delG GJB2 mutation occurs in Greenland with low frequency. We conclude the main causes behind the prevalence of HI in this population are chronic otitis media, noise traumas, and/or unidentified genetic causes. |
format |
Article in Journal/Newspaper |
author |
Homoe, P. Koch, A. Rendtorff, Nanna Dahl Lodahl, Marianne Andersen, T. Andersen, S. Eiberg, H. Nielsen, I. M. Tranebjaerg, L. |
spellingShingle |
Homoe, P. Koch, A. Rendtorff, Nanna Dahl Lodahl, Marianne Andersen, T. Andersen, S. Eiberg, H. Nielsen, I. M. Tranebjaerg, L. GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland |
author_facet |
Homoe, P. Koch, A. Rendtorff, Nanna Dahl Lodahl, Marianne Andersen, T. Andersen, S. Eiberg, H. Nielsen, I. M. Tranebjaerg, L. |
author_sort |
Homoe, P. |
title |
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland |
title_short |
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland |
title_full |
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland |
title_fullStr |
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland |
title_full_unstemmed |
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland |
title_sort |
gjb2 (connexin-26) mutations are not frequent among hearing impaired patients in east greenland |
publishDate |
2012 |
url |
https://portal.findresearcher.sdu.dk/da/publications/a8178cb6-66ad-4837-8835-461717782bf2 https://doi.org/10.3109/14992027.2012.660575 |
geographic |
Arctic Greenland |
geographic_facet |
Arctic Greenland |
genre |
Arctic East Greenland Greenland greenlander* inuit |
genre_facet |
Arctic East Greenland Greenland greenlander* inuit |
op_source |
Homoe , P , Koch , A , Rendtorff , N D , Lodahl , M , Andersen , T , Andersen , S , Eiberg , H , Nielsen , I M & Tranebjaerg , L 2012 , ' GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland ' , International Journal of Audiology , vol. 51 , no. 6 , pp. 433-436 . https://doi.org/10.3109/14992027.2012.660575 |
op_rights |
info:eu-repo/semantics/restrictedAccess |
op_doi |
https://doi.org/10.3109/14992027.2012.660575 |
container_title |
International Journal of Audiology |
container_volume |
51 |
container_issue |
6 |
container_start_page |
433 |
op_container_end_page |
436 |
_version_ |
1766338604473253888 |