The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

Dahl, H.-H. M., Tobin, S.E., Poulakis, Z., Rickards, F.W., Xu, X., Gillam, L., Williams, J., Saunders, K., Cone-Wesson, B. and Wake, M. 2006, The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children, Journal of medical genetics, vol. 43, no. 11, pp. 850-855, doi: 10.1136/jmg.2006.042051.

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Title The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children
Author(s) Dahl, H.-H. M.
Tobin, S.E.
Poulakis, Z.
Rickards, F.W.
Xu, X.
Gillam, L.
Williams, J.ORCID iD for Williams, J.
Saunders, K.
Cone-Wesson, B.
Wake, M.
Journal name Journal of medical genetics
Volume number 43
Issue number 11
Start page 850
End page 855
Total pages 6
Publisher BMJ Publishing Group
Place of publication London, Eng.
Publication date 2006-11
ISSN 0022-2593
Keyword(s) Alleles
Connexin 26
DNA Mutational Analysis
Genetic Testing
Hearing Loss, Bilateral
Hearing Loss, Sensorineural
Polymorphism, Single Nucleotide
Summary BACKGROUND: There is a lack of information on prevalence, cause and consequences of slight/mild bilateral sensorineural hearing loss (SNHL) in children. We report the first systematic genetic analysis of the GJB2 gene in a population-derived sample of children with slight/mild bilateral SNHL. METHODS: Hearing tests were conducted in 6240 Australian elementary school children in Grades 1 and 5. 55 children (0.88%) were found to have a slight/mild sensorineural hearing loss. 48 children with slight/mild sensorineural hearing loss and a matched group of 90 children with normal hearing participated in a genetic study investigating mutations in the GJB2 gene, coding for connexin 26, and the presence of the del(GJB6-D13S1830) and del(GJB6-D13S1854) deletions in the GJB6 gene, coding for connexin 30. RESULTS: Four of 48 children with slight/mild sensorineural hearing loss were homozygous for the GJB2 V37I change. The four children with homozygous V37I mutations were all of Asian background and analysis of SNPs in or near the GJB2 gene suggests that the V37I mutation arose from a single mutational event in the Asian population. DISCUSSION: Based on the prevalence of carriers of this change we conclude that V37I can be a causative mutation that is often associated with slight/mild sensorineural hearing loss. No other children in the slight/mild hearing loss group had a hearing loss related to a GJB2 mutation. One child with normal hearing was homozygous for the R127H change and we conclude that this change does not cause hearing loss. Two children of Asian background were carriers of the V37I mutation. Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background.
Language eng
DOI 10.1136/jmg.2006.042051
Field of Research 111704 Community Child Health
06 Biological Sciences
11 Medical And Health Sciences
Socio Economic Objective 920501 Child Health
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©[2006, BMJ Publishing Group]
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Document type: Journal Article
Collections: Faculty of Health
School of Health and Social Development
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