Prevalence of IVS1+1G&gt;A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

Bonyadi, Mortaza; Fotouhi, Nikou; Esmaeili, Mohsen

doi:10.1016/j.ijporl.2011.09.024

Cited by 14 publications

(6 citation statements)

References 23 publications

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“…The p.R143Q mutation segregates with dominantly inherited hearing loss, which ramps from normal or mild to moderate or severe (Kudo et al, ). Bonyadi, Fotouhi, and Esmaeili () reported the p.R143Q mutation as compound heterozygous with c.35delG in an Iranian Azeri‐Turkish patient affected with profound hearing loss. The proband had two affected sisters with same mutations and a normal sister who carried heterozygous p.R143Q mutation, showing this variant had partial penetrance.…”

Section: Discussionmentioning

confidence: 99%

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Naddafnia

Noormohammadi

Irani

et al. 2019

Molec Gen & Gen Med

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Background In the present study, we investigate the prevalence of the GJB 2 gene mutations, and deletions in the GJB 6 gene, namely del ( GJB 6‐D13S1830) and del ( GJB 6‐D13S1854), in patients with autosomal recessive non‐syndromic hearing loss (ARNSHL) from the central region of Iran. Methods One hundred and thirty‐one unrelated ARNSHL cases from the central part of Iran were recruited. Among them, 81% (106 cases) had at least two affected relatives. Coding and noncoding regions of the GJB 2 gene were sequenced. Multiplex PCR was used for analysis of del ( GJB 6‐D13S1830) and del ( GJB 6‐D13S1854) deletions in GJB 6. Results The GJB 2 variants were found in 16.79% (22/131) of the patients. The pathogenic variants were 21/131 (16.03%). The nonpathogenic variants were 1/131 (0. 07%). Allele frequency of the c.35delG as the pathogenic variant was the most common with 59.52% (25/42). The remaining pathogenic variants were c.235delC, p.T8M, p.R32H, p.R143Q, p.R143W, c‐23+1G>A. The only nonpathogenic variant was polymorphism p.V27I. Further segregation analysis showed that variant of p.R143Q might have incomplete penetrance. None of the patients had targeted deletions in the GJB 6 gene. Conclusion In comparison with reports from other areas of Iran, c.35delG demonstrates the highest frequency within the central region (accounting for 57.14% of cases), probably resulting from the founder effect and consanguineous marriage. The pathology of ARNSHL in such patients could be attributed to defects in Connexin 26 encoded by GJB 2.

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Section: Discussionmentioning

confidence: 99%

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Naddafnia

Noormohammadi

Irani

et al. 2019

Molec Gen & Gen Med

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“…This result is similar to that reported in many Arab populations (Shahin et al, 2002;Snoeckx et al, 2005;Riahi et al, 2013). This mutation is frequent in ARNSHL cases of Iranian Azeri Turkish population, Eastern Europe, Turkey and Kurdish population of Iran (Bonyadi et al, 2011;Mahdieh et al, 2004;Seeman and Sakmaryova, 2006;Sirmaci et al, 2006;Toth et al, 2007).…”

Section: Discussionmentioning

confidence: 94%

“…GJB2 mutation spectrum differs among various populations or even within a particular country. Therefore, it is necessary to establish the frequency of GJB2 mutations in any population (Bonyadi et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Non-Syndromic Autosomal Recessive Deafness in Gaza Strip: A Study of Five GJB2 Gene Mutations

Essammak¹

2014

IJGG

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Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of around 1 in 1000 infants. Genetic causes are thought to be responsible for more than 60% of the cases with the majority of non-syndromic hearing impairment being inherited in an autosomal recessive pattern. The gene that is most frequently mutated in autosomal recessive non-syndromic hearing loss (ARNSHL) is gap junction protein beta-2 (GJB2) which codes for connexin 26 (Cx26). Cx26 plays a key role in potassium homeostasis, which is essential for sound transduction. The aim of this study was to determine the common GJB2 gene mutations in 70 patients suffering from ARNSHL in Gaza strip. The patients were screened for five GJB2 gene mutations namely, c.35delG, c.167delT, c.-23+1G>A, c.229T>C (p.Trp77Arg) and c.235delC. Study results revealed that GJB2 mutations account for at least 35.7% of the ARNSHL with mutant allele frequency of 0.4%. The most frequently encountered mutation was c.35delG which accounted for 35.7% of the ARNSHL cases in either homozygous (34.3%) or heterozygous (1.4%) form and represented about 80.5% of all the detected mutations. The second most frequent mutation was c.235delC which was found only in heterozygous form. The third mutation was c.-23+1G>A which was identified in only one subject (1.4%) in a compound heterozygous form along with c.35delG. The c.167delT and p.Trp77Arg mutations were not observed in our patients. We conclude that there is a significant contribution of GJB2 mutations to congenital ARNSHL in the Palestinian population of Gaza strip. Screening for GJB2 mutations particularly, c.35delG, c.235delC and c.-23+1G>A should be offered to ARNSHL patients to confirm diagnosis of their congenital deafness, to deliver proper genetic counseling for the affected individuals and their families and to help them benefit from prenatal and preimplantation genetic diagnosis.

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“…be/hhh/ for more details). Genetic causes of hearing loss have been extensively studied in Iranian populations [2,[7][8][9][13][14][15][16][17][18][19][20].…”

Section: Discussionmentioning

confidence: 99%

GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution

Mahdieh

Hamdollah

Ahmadzadeh

et al. 2015

Eur Arch Otorhinolaryngol

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Hearing loss is the most common sensory defect caused by heterogeneous factors. Up to now, more than 60 mutations in genes have been documented for nonsyndromic hearing loss. Hence, finding the causal gene in affected families could be a laborious and time-consuming process. GJB2 mutations, here, were investigated among deaf subjects of Ilam for the first time. In this study, we studied 62 unrelated patients with non-syndromic autosomal recessive deafness from 62 families. The most common mutation of GJB2, 35delG was checked, followed by direct sequencing of the GJB2 gene for determination of other mutations. In silico analyses were also performed using available software. In nine families, mutations in the connexin 26 gene were observed. In the studied population, R32H was the most common mutation. 35delG, W24X, and R127H were other mutations found in this study. In silico analyses showed pathogenicity of 35delG, R32H, and W24X but not R127H. Low frequency of GJB2 mutations in this population is probably indicative of the fact that other genes may be involved in nonsyndromic hearing loss in Ilam populations. In the other hand, the vicinity of Ilam and Iraq suggests that GJB2 mutations have likely a low frequency in this population.

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Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

Cited by 14 publications

References 23 publications

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Non-Syndromic Autosomal Recessive Deafness in Gaza Strip: A Study of Five GJB2 Gene Mutations

GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution

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