Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

Ikeda, Katsuhisa; Kure, Shigeo; Matsubara, Yoichi; Oshima, Takeshi; Watanabe, Ken Ichi; Kawase, Tetsuaki; Narisawa, Kuniaki; Takasaka, Tomonori

doi:10.1002/(sici)1096-8628(20000117)90:2<141::aid-ajmg10>3.0.co;2-g

Cited by 194 publications

(197 citation statements)

References 11 publications

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“…8 There is a lot of evidence indicating that mutations of Cx26 might be a major contributor to prelingual deafness among Caucasians 9 -12 and Japanese. 4 However, there have been significant differences in the types and frequencies of mutation of Cx26 found between the two populations. 35delG has been reported to be the most common form of Cx26 mutation among Caucasians, but 235delC is reported to be the most frequently found form of Cx26 found among Japanese.…”

Section: Introductionmentioning

confidence: 77%

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Wang

Kung

Su³

et al. 2002

Eur J Hum Genet

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Mutations in the Cx26 (GJB2) gene have been shown to be responsible for a major part of autosomal recessive non-syndromic inherited prelingual deafness. We have sequenced the coding region of GJB2 gene from 169 Taiwanese patients with prelingual deafness and 100 unrelated normal individuals. In the deaf patients, three mutations were found: two novel mutations, 551G?A, and 299-300delAT, and one previously described mutation, 235delC. Four previously reported polymorphisms, 79G?A, 109G?A, 341A?G, and 608T?C, were also found in both deaf patients and normal individuals and one new possible polymorphism, 558G?A, which was only found in a patient. Interestingly, we did not find the 35delG allele, which is commonly found in the Caucasian population, either in the patients or in normal individuals we examined. Our data also showed 235delC to be the most common type of mutation found in Cx26 mutants (approximately 57%). Therefore, based on our findings, we have developed a simple molecular test for the 235delC mutation and it should be of considerable help to those families to understand the cause of their children having the prelingual deafness.

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Section: Introductionmentioning

confidence: 77%

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Wang

Kung

Su³

et al. 2002

Eur J Hum Genet

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“…The V37I mutation was originally reported as a polymorphism (Kelley et al 1998), but the fact that valine 37 residue is highly conserved among different connexins, and that a series of reports identified homozygous or compound heterozygous V37I deafness patients (Abe et al 2000;Bason et al 2002;Marlin et al 2001;Rabionet et al 2000;Wilcox et al 2000), indicate that it may be a disease-causing mutation. There seem to be ethnic differences in the allele frequency of V37I, as it was not detected in the control subjects from Italy, Spain, Germany, Greece, Israel, Ghana, or Austria (see Discussion in Bason et al 2002) in spite of a high prevalence in the Japanese population (Abe et al 2000;Kudo et al 2000;Ohtsuka et al 2003). The reported patients in whom the ethnic background was known were all of eastern-Asian origin (Abe et al 2000;Bason et al 2002;Kudo et al 2000;Ohtsuka et al 2003).…”

Section: Discussionmentioning

confidence: 96%

“…There seem to be ethnic differences in the allele frequency of V37I, as it was not detected in the control subjects from Italy, Spain, Germany, Greece, Israel, Ghana, or Austria (see Discussion in Bason et al 2002) in spite of a high prevalence in the Japanese population (Abe et al 2000;Kudo et al 2000;Ohtsuka et al 2003). The reported patients in whom the ethnic background was known were all of eastern-Asian origin (Abe et al 2000;Bason et al 2002;Kudo et al 2000;Ohtsuka et al 2003). In Japanese, V37I is the second most frequent mutated allele, and in this study, it was possible to collect a significant number of patients, and the present data confirmed a less severe phenotype caused by V37I.…”

Section: Discussionmentioning

confidence: 99%

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns

et al. 2005

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Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations. Genetic testing offers opportunities to determine the cause of deafness and predict the course of hearing, enabling the prognostication of language development. In the current study, we compared severity of hearing impairment in 60 patients associated with biallelic GJB2 mutations and assessed the correlation of genotypes and phenotypes. Within a spectrum of GJB2 mutations found in the Japanese population, the phenotype of the most prevalent mutation, 235delC, was found to show more severe hearing impairment than that of V37I, which is the second most frequent mutation. The results of the present study, taken together with phenotypes caused by other types of mutations, support the general rule that phenotypes caused by the truncating GJB2 mutations are more severe than those caused by missense mutations. The present in vitro study further confirmed that differences in phenotypes could be explained by the protein expression pattern.

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“…14,15 As of June 2010, more than 200 different allelic variants in the GJB2 gene have been ascertained (http://www.hgmd.cf.ac.uk/ac/index.php). 16 The 167delT, 235delC, R143W and W24X mutations are the most common mutations in the Ashkenazi Jewish, 17 Japanese, 18 Ghanian 19,20 and Indian populations, 21,22 respectively (Figure 1). Thus, an ethnic-specific pattern is noted for some mutations of this gene, 16,21 which is different from that reported among various cohorts of Iran.…”

Section: Molecular Geneticsmentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

Cited by 194 publications

References 11 publications

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

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