Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland
Abstract Objective : The aims of the present study were to evaluate the role of the gap junction protein β‐2 gene ( GJB2 ), encoding connexin 26 ( Cx26 ), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of...
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crwiley:10.1097/00005537-200310000-00018 2024-09-30T14:40:05+00:00 Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland Löppönen, Tuija Väisänen, Marja‐Leena Luotonen, Mirja Allinen, Minna Uusimaa, Johanna Lindholm, PÄIvi Mäki‐Torkko, Elina Väyrynen, Mirja Löppönen, Heikki Leisti, Jaakko 2003 http://dx.doi.org/10.1097/00005537-200310000-00018 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1097%2F00005537-200310000-00018 https://onlinelibrary.wiley.com/doi/pdf/10.1097/00005537-200310000-00018 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor The Laryngoscope volume 113, issue 10, page 1758-1763 ISSN 0023-852X 1531-4995 journal-article 2003 crwiley https://doi.org/10.1097/00005537-200310000-00018 2024-09-17T04:52:04Z Abstract Objective : The aims of the present study were to evaluate the role of the gap junction protein β‐2 gene ( GJB2 ), encoding connexin 26 ( Cx26 ), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of the GJB2 gene mutations in a control population in Northern Finland. Methods : Mutation analysis was performed by direct sequencing and carrier detection by conformation sensitive gel electrophoresis further confirmed by direct sequencing. Results : Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. Homozygosity for the mutation 35delG was shown to be the cause of HI in 13 of 15 (86.7%) children. Homozygosity for the M34T genotype was found in one child, and compound heterozygosity for the M34T/V37I genotype was found in another. Five families of those with suspected familial HI (29.4%) and six families out of those with sporadic HI (12.0%) had a homozygous or compound heterozygous mutation. The carrier frequency for the mutation 35delG was 1 of 78 (4 of 313) and that for the M34T was 1 of 26 (12 of 313). Conclusion : 35delG/35delG genotype was found to be a significant cause of moderate to profound prelingual nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation. Article in Journal/Newspaper Northern Finland Wiley Online Library The Laryngoscope 113 10 1758 1763 |
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Wiley Online Library |
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English |
description |
Abstract Objective : The aims of the present study were to evaluate the role of the gap junction protein β‐2 gene ( GJB2 ), encoding connexin 26 ( Cx26 ), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of the GJB2 gene mutations in a control population in Northern Finland. Methods : Mutation analysis was performed by direct sequencing and carrier detection by conformation sensitive gel electrophoresis further confirmed by direct sequencing. Results : Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. Homozygosity for the mutation 35delG was shown to be the cause of HI in 13 of 15 (86.7%) children. Homozygosity for the M34T genotype was found in one child, and compound heterozygosity for the M34T/V37I genotype was found in another. Five families of those with suspected familial HI (29.4%) and six families out of those with sporadic HI (12.0%) had a homozygous or compound heterozygous mutation. The carrier frequency for the mutation 35delG was 1 of 78 (4 of 313) and that for the M34T was 1 of 26 (12 of 313). Conclusion : 35delG/35delG genotype was found to be a significant cause of moderate to profound prelingual nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation. |
format |
Article in Journal/Newspaper |
author |
Löppönen, Tuija Väisänen, Marja‐Leena Luotonen, Mirja Allinen, Minna Uusimaa, Johanna Lindholm, PÄIvi Mäki‐Torkko, Elina Väyrynen, Mirja Löppönen, Heikki Leisti, Jaakko |
spellingShingle |
Löppönen, Tuija Väisänen, Marja‐Leena Luotonen, Mirja Allinen, Minna Uusimaa, Johanna Lindholm, PÄIvi Mäki‐Torkko, Elina Väyrynen, Mirja Löppönen, Heikki Leisti, Jaakko Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland |
author_facet |
Löppönen, Tuija Väisänen, Marja‐Leena Luotonen, Mirja Allinen, Minna Uusimaa, Johanna Lindholm, PÄIvi Mäki‐Torkko, Elina Väyrynen, Mirja Löppönen, Heikki Leisti, Jaakko |
author_sort |
Löppönen, Tuija |
title |
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland |
title_short |
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland |
title_full |
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland |
title_fullStr |
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland |
title_full_unstemmed |
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland |
title_sort |
connexin 26 mutations and nonsyndromic hearing impairment in northern finland |
publisher |
Wiley |
publishDate |
2003 |
url |
http://dx.doi.org/10.1097/00005537-200310000-00018 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1097%2F00005537-200310000-00018 https://onlinelibrary.wiley.com/doi/pdf/10.1097/00005537-200310000-00018 |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
The Laryngoscope volume 113, issue 10, page 1758-1763 ISSN 0023-852X 1531-4995 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1097/00005537-200310000-00018 |
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