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

ABSTRACT: 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.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.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.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.

SUBMITTER: Dahl HH

PROVIDER: S-EPMC2563186 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature

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

Dahl H-H M HH Tobin S E SE Poulakis Z Z Rickards F W FW Xu X X Gillam L L Williams J J Saunders K K Cone-Wesson B B Wake M M

Journal of medical genetics 20060713 11

<h4>Background</h4>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.<h4>Methods</h4>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 childr ...[more]

PMID: 16840571

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Project description:Importance:Children with severe hearing loss are known to have more behavioral problems and may perform worse at school than children without. Few large-scale studies of slight to mild hearing loss are available. Objective:To examine the relevance of slight to mild hearing loss by studying its association with behavioral problems and school performance. Design, Setting, and Participants:This cross-sectional study was performed within an ongoing prospective birth cohort study in Rotterdam, the Netherlands. Participants were part of a population-based sample of children. Between ages 9 and 11 years, 5355 children underwent audiometric and behavioral evaluations. Children were excluded if they had missing data for either audiometry or both outcomes. Data were collected from April 2012 through October 2015. Data were analyzed from March to June 2018. Exposures:Audiometric evaluation included pure-tone audiometry tests and speech-in-noise testing. Main Outcomes and Measures:Child behavior was rated by the primary caregiver using the Child Behavior Checklist at ages 9 to 11 years (n?=?4471). School performance was measured with a standardized test at age 12 years (n?=?2399). Results:The final sample included 4779 participants who were a mean (SD) age of 9.8 (0.3) years. The sample had nearly equal distribution between boys (n?=?2200; 49.2%) and girls (n?=?2271; 50.8%). Associations of hearing thresholds with behavioral problems differed between boys and girls. Among boys, higher pure-tone hearing thresholds at low frequencies were associated with higher total problem, social problem, and attention problem scores (total problems for the better-hearing ear: ??=?0.01; 95% CI, 0-0.02). Higher speech reception thresholds were associated with higher attention problem scores among girls (??=?0.04; 95% CI, 0-0.08). Higher speech reception thresholds were associated with poorer school performance scores for both boys and girls (??=?-0.06; 95% CI, -0.10 to -0.02). Conclusions and Relevance:Higher hearing thresholds during pure-tone audiometric and speech-in-noise testing were associated with higher behavioral problem scores and poorer school performance. This supports the relevance of slight to mild hearing loss with these outcomes in school-aged children.

Project description:BackgroundHearing loss is caused by several environmental and genetic factors and the proportion attributed to inherited causes is assumed at 50?~?60% . Mutations in GJB2 and mitochondrial DNA (mtDNA) 12S rRNA are the most common molecular etiology for nonsyndromic sensorineural hearing loss (NSHL). The mutation spectra of these genes vary among different ethnic groups.MethodsTo add the molecular etiologic information of hearing loss in the Chinese population, a total of 658 unrelated patients with NSHL from Jiangsu Province of China were selected for mutational screening including GJB2 and mtDNA 12S rRNA genes using PCR and DNA sequencing technology. As for controls, 462 normal-hearing individuals were collected.ResultsA total of 9 pathogenic mutations in the GJB2 and 7 pathogenic mutations in the 12S rRNA gene were identified. Of all patients, 70 had monoallelic GJB2 coding region mutation in the heterozygous state, 94 carried two confirmed pathogenic mutations including 79 homozygotes and 15 compound heterozygotes. The 235delC appears to be the most common deafness-causing GJB2 mutation (102/658, 15.50% ). No mutations or variants in the GJB2 exon1 and basal promoter region were found. In these patients, 4 subjects carried the m.1494C?>?T mutation (0.61% ) and 39 subjects harbored the m.1555A?>?G mutation (5.93% ) in mtDNA 12S rRNA gene. A novel sequence variant at m.1222A?>?G in the 12S rRNA gene was identified, which could alter the secondary structure of the 12S rRNA.ConclusionThe mutation spectrum and prevalence of GJB2 and mtDNA 12S rRNA genes in Jiangsu population are similar to other areas of China. There are in total 31.46% of the patients with NSHL carry deafness-causing mutation in GJB2 or mtDNA 12S rRNA genes. Mutation in GJB2 gene is the most common factor, mtDNA 12S rRNA also plays an important part in the pathogenesis of hearing loss in Jiangsu Province areas. The m.1222A?>?G was found to be a new candidate mutation associated with hearing loss. Our results indicated the necessity of genetic screening for mutations of these genes in Jiangsu patients with NSHL.

Dataset Information

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

Publications

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

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