Detailed Hearing and Vestibular Profiles in the Patients with <i>COCH</i> Mutations

Tsukada, Keita; Ichinose, Aya; Miyagawa, Maiko; Mori, Kentaro; Hattori, Mitsuru; Nishio, Shin‐ya; Naito, Yasushi; Usami, Shin‐ichi

doi:10.1177/0003489415573074

Cited by 26 publications

(26 citation statements)

References 40 publications

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“…These frequencies are relatively high and are compatible with those from past reports. It is worthy of note that these mutations ( WFS1 : c.2507A>C (p.K836T), COCH : c.1115T>C (p.I372T)) are recurrent mutations in Japanese patients[27, 28]. Therefore, they may be related to a founder effect.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

2016

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BackgroundIn general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS).Subjects and MethodsSeventy-five Japanese ADSNHL patients from 53 ENT departments nationwide participated in this study. We conducted genetic analysis of 75 ADSNHL patients using the Invader assay, TaqMan genotyping assay and MPS-based genetic screening.ResultsA total of 46 (61.3%) ADSNHL patients were found to have at least one candidate gene variant.ConclusionWe were able to achieve a high mutation detection rate through the combination of the Invader assay, TaqMan genotyping assay and MPS. MPS could be used to successfully identify mutations in rare deafness genes.

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Section: Discussionmentioning

confidence: 99%

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

2016

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“…These included variants in ACTG1, CDH23, COCH, COL4A5, COL11A2, CRYM, EYA1, GJB2, GJB3, GJB6, KCNQ4, LOXHD1, MARVELD2, MYH9, MYO6, MYO7A, MYO15A, OTOF, SIX1, SLC26A4, TECTA, TMC1, TMIE, TMPRSS3, USH1C, USH2A , and WFS1 . Their list of new candidate variants, which is being published separately, attests to the requirement for ethnic-specific data and includes variants in ACTG1, COCH, COL11A2, GRXCR1, KCNQ4, MYO6, MYO15A , and TMPRSS3 [36–42]. …”

Section: Diagnostic Ratementioning

confidence: 99%

Navigating genetic diagnostics in patients with hearing loss

Sloan-Heggen

Smith

2016

Current Opinion in Pediatrics

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Purpose of review In the age of targeted genomic enrichment and massively parallel sequencing there is no more efficient genetic testing method for the diagnosis of hereditary hearing loss. More clinical tests are on the market, which can make choosing good tests difficult. Recent findings More and larger comprehensive genetic studies in patients with hearing loss have been published recently. They remind us of the importance of looking for both single nucleotide variation and copy number variation in all genes implicated in non-syndromic hearing loss. They also inform us of how a patient’s history and phenotype provide essential information in the interpretation of genetic data. Summary Choosing the most comprehensive genetic test improves the chances of a genetic diagnosis and thereby impacts clinical care.

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“…With regard to the effectiveness of CI, Nagy et al reported that CI had no benefit in patients with COCH mutations (Nagy et al, ), while other reports, including our own, have described improved results after CI (Street et al, ; Vermeire et al, ; Tsukada et al, ). A previous temporal bone study reported that spiral ganglions were able to survive even though there was extensive degradation of cochlear dendrites (Khetarpal et al, ), indicating that the remaining spiral ganglion cells can be stimulated by CI, resulting in an improved performance after CI in patients with COCH mutations.…”

Section: In Patients With Specific Genetic Backgroundsmentioning

confidence: 63%

“…The proband was a 70‐year‐old man (III‐2) (Fig. ) (Tsukada et al, ). In his early 50s he experienced hearing loss for the first time, which was not accompanied with tinnitus or vertigo.…”

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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Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations

Cited by 26 publications

References 40 publications

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Navigating genetic diagnostics in patients with hearing loss

Cochlear Implantation From the Perspective of Genetic Background

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