GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

Ohtsuka, Akihiro; Yuge, Isamu; Kimura, Shota; Namba, Atsushi; Abe, Satoko; Laer, Lut Van; Camp, Guy Van; Usami, Shin‐ichi

doi:10.1007/s00439-002-0889-x

Cited by 151 publications

(113 citation statements)

References 19 publications

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“…The detection rates (17.4% for all, 27.0% for congenital) are in accordance with our previous data of 15% in the overall deafness population and 25% in congenital deafness patients [5]. The mutation spectrum found in this study is also in accordance with our previous results [2], [4], [5]. In GJB2 screening, 46 (17.4%) samples from deafness subjects had mutations of one or both alleles of the GJB2 gene.…”

Section: Discussionsupporting

confidence: 92%

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Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

et al. 2012

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Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing. In the present report, 264 Japanese patients with bilateral sensorineural hearing loss from 33 ENT departments nationwide participated. For these patients, we first applied the Invader assay for screening 47 known mutations of 13 known deafness genes, followed by direct sequencing as necessary. A total of 78 (29.5%) subjects had at least one deafness gene mutation. Mutations were more frequently found in the patients with congenital or early-onset hearing loss, i.e., in those with an awareness age of 0–6 years, mutations were significantly higher (41.8%) than in patients with an older age of awareness (16.0%). Among the 13 genes, mutations in GJB2 and SLC26A4 were mainly found in congenital or early-onset patients, in contrast with mitochondrial mutations (12S rRNA m.1555A>G, tRNA(Leu(UUR)) m.3243A>G), which were predominantly found in older-onset patients. The present method of simultaneous screening of multiple deafness mutations by Invader assay followed by direct sequencing will enable us to detect deafness mutations in an efficient and practical manner for clinical use.

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Section: Discussionsupporting

confidence: 92%

“…2) SLC26A4 mutation analysis for all the subjects with EVA, 3) SLC26A4 mutation analysis for heterozygous patients for these genes. DNA fragments containing the entire coding region were sequenced as described elsewhere [3], [4].…”

Section: Methodsmentioning

confidence: 99%

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

et al. 2012

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“…This is comparable with the previously reported frequency of 17.9% in 2063 Chinese HL patients [9]. According to previous reports, pathogenic variants of c.35delG, c.167delT, and c.235delC are the 3 most frequent pathogenic variants in Caucasian, Ashkenazi Jewish, and Asian populations [10–14]. The frequency of c.235delC varies from 4% to 30.4% among different regions in China [9].…”

Section: Discussionsupporting

confidence: 88%

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

Gao

et al. 2016

PLoS ONE

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The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain ~40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics.

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“…45,46 The high frequency of the 235delC mutation in East Asian populations has subsequently been shown to be the result of a founder effect, rather than a mutational hot spot, and 235delC among all East Asian populations was derived from a common ancestral founder. 47,48 …”

Section: Introductionmentioning

confidence: 99%

The genetic bases for non-syndromic hearing loss among Chinese

et al. 2009

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Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and non-syndromic forms of deafness in the Chinese population are caused by defects in a small number of genes. Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chinese deaf patients as well as a unique spectrum of common and rare deafness gene mutations in the Chinese population. This review is focused on the genetic aspects of non-syndromic and mitochondrial deafness, in which unique molecular genetic features of hearing impairment have been identified in the Chinese population. The current China population is approximately 1.3 billion. It is estimated that 30 000 infants are born with congenital sensorineural hearing loss each year. Better understanding of the genetic causes of deafness in the Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.

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GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

Cited by 151 publications

References 19 publications

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

The genetic bases for non-syndromic hearing loss among Chinese

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