GJB2 Gene Mutations in Cochlear Implant Recipients

Abstract

Objective: To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation (CI) and their impact on rehabilitative outcome following implantation. Design: Prospective determination of GJB2 mutation by sequence analysis by denaturing high-performance liquid chromatography and its correlation with outcome following CI. Settings: Two tertiary academic medical centers. Patients: Subjects who have met the audiologic criteria and have undergone CI.

GJB2 mutations and additional disabilities in a pediatric cochlear implant population

“…These factors can affect our understanding of the presumed phenotype of children with GJB2 mutations. Some studies have shown better outcomes in children with GJB2-related deafness in regards to auditory perception and speech intelligibility [11,12,22], while others have shown no difference in outcomes based on the etiology of deafness [9,10,13,23]. If the majority of children identified with GJB2-related deafness did not have other risk factors affecting developmental outcomes, the effectiveness of a cochlear implant may indeed be encouraging.…”

“…In a similar study on the impact of cochlear implants on rehabilitative outcomes and GJB2-related deafness, Lustig et al described two children (out of eight total) with a single heterozygous deafness allele. One child had a physical disability and both had non-syndromic mental disabilities which made testing of these subjects difficult [9]. Although not all outcome studies have found the occurrence of additional disabilities among cochlear implant recipients with GJB2-related deafness [10][11][12], some reports have excluded children with additional disabilities [8,13], making it difficult to understand the potential for co-occurrence of these disabilities in this population.…”

DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome

“…Therefore, several studies have compared speech perception in CI children relative to the presence/absence of GJB2 mutations. While some authors point to better results in the GJB2 group [13], others find no significant differences between both groups, with and without mutations in GJB2 [14].…”

High homogeneity in auditory outcome of pediatric CI-patients with mutations in Gap-Junction-Protein Beta2

“…Through careful selection of a population they were able to demonstrate that the GJB2-positive group achieved a higher reading score, thus implicating an absence of central processing disorders. Four publications did not find any better results for patients harbouring GJB2-mutations [16][17][18][19]. However, in the study by Lustig et al only 3 individuals with hearing loss due to GJB2-Mutation were included, a sample size much too small for reliable statistical analysis.…”

“…Concerning the latter, a number of studies have examined GJB2-related deafness, because improved counselling for this large group of CI-recipients would be beneficial. 5 of them showed better performance in GJB2-patients [11][12][13][14][15], and 4 found no difference in performance between the two groups [16][17][18][19]. The controversial statements of these studies, partially due to small sample size, lack of proper statistical analysis or short follow-up, prompted us to determine in a retrospective study whether in the Swiss Objectives: A controversy exists in the literature regarding better auditory performance of cochlear implanted children with mutations in the Gap-Junction-Protein Beta2 (GJB2) gene.…”