Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort

Nishio, Shin‐ya; Usami, Shin‐ichi

doi:10.1177/0003489415575059

Cited by 71 publications

(31 citation statements)

References 29 publications

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“…The largest comprehensive study to date, by Nishio and Usami, reported a diagnostic rate of ~40% in 1120 Japanese patients [33**]. Of the 112 genes these authors targeted with TGE+MPS panels, 30 genes were reported as deafness-causing in their cohort.…”

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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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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“…We also have recently reported that target exon sequencing using MPS is a powerful tool for the identification of rare gene mutations in deafness patients[6–8]. …”

Section: Introductionmentioning

confidence: 99%

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

2016

Self Cite

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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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“…Among a number of deafness-related genes (the Hereditary Hearing Loss Homepage, http://hereditaryhearingloss.org/), mutations in GJB2 , SLC26A4 , GJB3 , and mitochondrial 12S rRNA gene ( MT-RNR1 ) are found to be more frequent. Mutations in GJB2 and SLC26A4 have been reported to cause autosomal recessive nonsyndromic hearing loss, while the inheritance pattern of GJB3 mutations is not quite clear (Nishio and Usami, 2015). Mutations in these genes are estimated to explain more than 40% of non-syndromic hearing loss cases (Wu et al ., 2011, Qing et al ., 2015).…”

Section: Introductionmentioning

confidence: 99%

Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region

Liu

Ding

et al. 2016

Genet. Mol. Biol.

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The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients. Pathogenic mutations were detected in 168 patients: 114 were homozygotes and 54 were compound heterozygotes. The 114 patients were carriers of only one mutated allele. The frequency of GJB2 variants in Han Chinese (21.0%) was higher than that in Mongolians (16.7%), but not significantly different. On the other hand, the frequency of SLC26A4 variants in Han Chinese (14.8%) was lower than that in Mongolians (19.4%), but also not significantly different. The frequency of patients with pathogenic mutations was different in Ulanqab (21.4%), Xilingol (40.0%), Chifeng (40.0%), Hulunbeier (30.0%), Hohhot (26.3%), and in Baotou (0%). In conclusion, the frequency of mutated alleles in deafness-related genes did not differ between Han Chinese and Mongolians. However, differences in the distribution of common deafness-related mutations were found among the investigated areas of Inner Mongolia.

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Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort

Cited by 71 publications

References 29 publications

Navigating genetic diagnostics in patients with hearing loss

Navigating genetic diagnostics in patients with hearing loss

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region

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