Prevalent connexin 26 gene (GJB2) mutations in Japanese

Abe, Satoko; Usami, Shin‐ichi; Shinkawa, Hideichi; Kelley, Philip M.; Kimberling, William J.

doi:10.1136/jmg.37.1.41

Cited by 353 publications

(355 citation statements)

References 8 publications

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“…7,15 As shown in Table 3, this is slightly lower than the carrier frequencies reported for Korea's neighboring countries, Japan and China; these differences might be because of the small number of subjects tested in those countries. [22][23][24][25] The frequency of carriers with mutations in the SLC26A4 was 1 in 75, similar to the carrier frequencies reported previously in the Korean population 8 and Japanese population 21 (Table 4). Given that the one mutation that we investigated represents 45.5% of the genetic variation in Korean hearing-loss patients with the SLC26A4 mutations, 8 we presume that the carrier frequency of the SLC26A4-related mutations in the Korean population is 1 in 34.…”

Section: Discussionsupporting

confidence: 79%

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Song

Lee

et al. 2011

J Hum Genet

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Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic hearing loss (NSHL), glycogen storage disease type Ia (GSD Ia), phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital lipoid adrenal hyperplasia (CLAH) were selected to screen for based on previous studies. A total of 3057 Koreans were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry followed by confirmation using the Sanger sequencing. We found 201 and 8 carriers with either one or two mutations in different genes, respectively, yielding a total carrier frequency of 1 in 15 (6.7%). Of the six AR-MDs, NSHL has the highest carrier frequency followed by WD, CH, CLAH, GSD Ia, and PKU. As carrier screening tests are becoming prevalent and the number of mutations known and tested is rising, a priori data on the carrier frequencies in different ethnic groups is mandatory to plan a population screening program and to estimate its efficiency. In light of this, the present results can be used as a basis to establish a screening policy for common AR-MRs in the Korean population.

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Section: Discussionsupporting

confidence: 79%

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Song

Lee

et al. 2011

J Hum Genet

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“…A comparable situation has been observed regarding the most common cause of HL, mutations in GJB2 (Denoyelle et al, 1997;Gasparini et al, 2000;Abe et al, 2000).…”

Section: Discussionsupporting

confidence: 68%

The 342-kb deletion inGJB6is not present in patients with non-syndromic hearing loss from Austria

et al. 2003

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Recently, a 342-kb deletion involving GJB6 was associated with autosomal-recessive nonsyndromic hearing loss (NSHL) and in combination with a GJB2 mutation with digenic NSHL. This deletion was the second most common mutation causing prelingual NSHL in Spain, and was frequently observed in patients from France and Israel. We screened 393 patients with NSHL being negative or heterozygous for GJB2 mutations for this GJB6 deletion using a multiplex PCR. Most patients were of Austrian (84.2%), and the other patients were of Turkish, Serbian, and Bosnian origin. None of these patients was carrying the deletion in GJB6 indicating that the occurrence of this deletion is restricted to certain populations.

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“…The six putatively causative variants (Table 3). Three mutations, c.35delG, c.167delT, and c.235delC, are found to be the most frequent mutations in Caucasian, Ashkenazi Jewish, and Asian populations, respectively (Gabriel et al [18], Morell et al [19], Ohtsuka et al [20], Park et al [21], Rabionet et al [4], Wilcox et al [22], Abe et al [24], Ballana et al [25], Roux et al [26]). In an Iranian study by Galehdari et al [23] it was reported an absence of any mutation associated with deafness, including the commonly described mutations 35delG, 427C [ T(R143 W), 167delT, and 235delC in the connexin-26 (GJB2) gene in an ethnic group of the Iranian Arab NSARD patients.…”

Section: Discussionmentioning

confidence: 99%

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness

Banjara

Mungutwar

Swarnkar

et al. 2015

Indian J Otolaryngol Head Neck Surg

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Hearing loss is most common form of genetic hearing disorder. Non-syndromic sensory neural autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutations in GJB2 gene, which encodes the connexin 26 protein, are major cause of NSRD. The aim of this study is directed towards the mutations caused along the connexin 26 gene using blood samples from nonsyndromic deaf children. The study was conducted on 36 congenitally hearing impaired children who visited to our department with complains of hearing loss and reduced speech and whose age was\10 years with no other congenital anomaly. After a thorough history, clinical examination and all audiological and radiological assessment, blood samples are collected and DNA extraction, PCR and sequencing were done for further genetic analysis. Annotated and documented autosomal recessive (pathogenic) mutations were observed in 57 % of NSRD cases. The frequency of pathogenic mutation was commonest for Ins G between nucleotide 30-35 (40 % of cases) followed by Del T at nucleotide 59(20 % of cases).These two common mutations (singly or doubly) were present in 51.4 % of cases. Present study helps to screen the families with hearing impaired children, which will facilitate the development of strategies for diagnosis and treatment of these common genetic disorders.

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

Cited by 353 publications

References 8 publications

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

The 342-kb deletion inGJB6is not present in patients with non-syndromic hearing loss from Austria

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness

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