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Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

Lopponen, T; Vaisanen, ML; Luotonen, M; Allinen, M; Uusimaa, J; Lindholm, P; Mäki-Torkko, Elina LU ; Vayrynen, M; Lopponen, H and Leisti, J (2003) In Laryngoscope 113(10). p.1758-1763
Abstract
Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-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... (More)
Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-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 I of 26 (12 of 313). Conclusion: 35deIG/35deIG 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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
M34T, (GJB2), sensorineural hearing impairment, gap junction protein beta-2 gene, 35delG, connexin 26 (Cx26)
in
Laryngoscope
volume
113
issue
10
pages
1758 - 1763
publisher
Lippincott Williams & Wilkins
external identifiers
  • pmid:14520102
  • wos:000185871500017
  • scopus:0141640888
ISSN
1531-4995
language
English
LU publication?
yes
id
bd8f5670-0f91-4119-b44b-19b7784eef94 (old id 298303)
date added to LUP
2007-09-17 15:48:40
date last changed
2018-05-29 10:18:20
@article{bd8f5670-0f91-4119-b44b-19b7784eef94,
  abstract     = {Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-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 I of 26 (12 of 313). Conclusion: 35deIG/35deIG 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.},
  author       = {Lopponen, T and Vaisanen, ML and Luotonen, M and Allinen, M and Uusimaa, J and Lindholm, P and Mäki-Torkko, Elina and Vayrynen, M and Lopponen, H and Leisti, J},
  issn         = {1531-4995},
  keyword      = {M34T,(GJB2),sensorineural hearing impairment,gap junction protein beta-2 gene,35delG,connexin 26 (Cx26)},
  language     = {eng},
  number       = {10},
  pages        = {1758--1763},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Laryngoscope},
  title        = {Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland},
  volume       = {113},
  year         = {2003},
}