Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review

Nishio, Shin‐ya; Usami, Shin‐ichi

doi:10.1080/00016489.2016.1276303

Cited by 46 publications

(31 citation statements)

References 22 publications

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“…Cochlear implantation has been reported to be effective for the patients with OTOF mutations as the OTOF gene mutations result in disruption of the synaptic exocytosis of inner hair cells, and the auditory nerves and spiral ganglions are preserved in patients with these mutations[31–33]. It is reported that outcome of cochlear implantation is predictable to some extent for various gene mutations[34]. Patients with OTOF mutations are predicted to show good outcomes; therefore, the detection of OTOF mutations is quite beneficial for the patients, especially for those with ANSD.…”

Section: Discussionmentioning

confidence: 99%

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

et al. 2019

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The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF -related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD.

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Section: Discussionmentioning

confidence: 99%

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

et al. 2019

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“…The patients with DFNB59 or PCDH15 variants are associated with poor CI performance (Wu et al, ). This is in line with the gene expression results of a laser‐microdissection‐based gene expression study which showed that DFNB59 and PCDH15 are highly expressed outside the cochlea (Nishio and Usami, ) (Fig. ).…”

Section: General Relationship Between CI Outcome and The Genetic Backmentioning

confidence: 99%

“…For patients with severe phenotypes who possess GJB2 mutations, genetic information would aid in decision making regarding CI, as their hearing loss is of cochlear origin and they, therefore, would be good candidates for CI. The present literature review indicates that the majority of papers showed significant improvement in speech performance in GJB2 ‐related deafness patients and the remaining papers showed equivalent results between GJB2‐ related deafness and non‐ GJB2 deafness (for review; Abdurehim et al, ; Nishio and Usami, ). The difference in these results is probably due to patient selection bias.…”

Section: In Patients With Specific Genetic Backgroundsmentioning

confidence: 99%

Cochlear Implantation From the Perspective of Genetic Background

Usami

Nishio

Moteki

et al. 2020

The Anatomical Record

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While cochlear implantation (CI) technology has greatly improved over the past 40 years, one aspect of CI that continues to pose difficulties is the variability of outcomes due to numerous factors involved in postimplantation performance. The electric acoustic stimulation (EAS) system has expanded indications for CI to include patients with residual hearing, and is currently becoming a standard therapy for these patients. Genetic disorders are known to be the most common cause of congenital/early‐onset sensorineural hearing loss, and are also involved in a considerable proportion of cases of late‐onset hearing loss. There has been a great deal of progress in the identification of deafness genes over the last two decades. Currently, more than 100 genes have been reported to be associated with non‐syndromic hearing loss. Patients possessing a variety of deafness gene mutations have achieved satisfactory auditory performance after CI/EAS, suggesting that identification of the genetic background facilitates prediction of post‐CI/EAS performance. When the intra‐cochlear etiology is associated with a specific genetic background, there is a potential for good CI performance. Thus, it is essential to determine which region of the cochlea is affected by identifying the responsible genes. This review summarizes the genetic background of the patients receiving CI/EAS, and introduces detailed clinical data and CI/EAS outcomes in representative examples. Anat Rec, 303:563–593, 2020. © 2020 The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists.

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“…Several studies have concentrated on a possible link between genetic etiology of HL and CI outcome [21,25,30], but many of them have provided uncertain and controversial results. Reliable studies assessing this issue require a large number of patients with similar demographic features and a similar influence of environmental factors.…”

Section: Possible Explanations For Uncertain Data From the Literaturementioning

confidence: 99%

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

Oziębło

Obrycka

Lorens

et al. 2020

JCM

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Almost 60% of children with profound prelingual hearing loss (HL) have a genetic determinant of deafness, most frequently two DFNB1 locus (GJB2/GJB6 genes) recessive pathogenic variants. Only few studies combine HL etiology with cochlear implantation (CI) outcome. Patients with profound prelingual HL who received a cochlear implant before 24 months of age and had completed DFNB1 genetic testing were enrolled in the study (n = 196). LittlEARS questionnaire scores were used to assess auditory development. Our data show that children with DFNB1-related HL (n = 149) had good outcome from the CI (6.85, 22.24, and 28 scores at 0, 5, and 9 months post-CI, respectively). A better auditory development was achieved in patients who receive cochlear implants before 12 months of age. Children without residual hearing presented a higher rate of auditory development than children with responses in hearing aids over a wide frequency range prior to CI, but both groups reached a similar level of auditory development after 9 months post-CI. Our data shed light upon the benefits of CI in the homogenous group of patients with HL due to DFNB1 locus pathogenic variants and clearly demonstrate that very early CI is the most effective treatment method in this group of patients.

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Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review

Cited by 46 publications

References 22 publications

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Cochlear Implantation From the Perspective of Genetic Background

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

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