Identification and clinical implications of a novel pathogenic variant in the &lt;i&gt;GJB2&lt;/i&gt; gene causes autosomal recessive non-syndromic hearing loss in a consanguineous Iranian family

Koohiyan, Mahbobeh

doi:10.5582/irdr.2019.01112

Cited by 2 publications

(5 citation statements)

References 25 publications

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“…This study shows that investigation of the GJB2 gene is a preliminary step before going to next-generation sequencing. 9 We also wanted to add that analysis of genes using Sanger sequencing for mutation study may be economical and also be a faster diagnostic technique.…”

Section: Discussionmentioning

confidence: 99%

“… 7 GJB2 gene is present on chromosome 13q12, which codes for connexin 26 and it is present on DFNB1 locus. 8 9 …”

Section: Introductionmentioning

confidence: 99%

“…Since then, worldwide, most of the population demonstrated DFNB1 HL. 9 11 So, the GJB2 gene became one of the major targets for mutation searching by the genetic diagnosis of nonsyndromic sensorineural HL. However, the mutation caused by the GJB2 gene was majorly recorded to follow recessive inheritance, and results occurred in DFNB1 nonsyndromic hearing impairment followed homozygous or compound heterozygous pattern of inheritance.…”

Section: Introductionmentioning

confidence: 99%

“…7 GJB2 gene is present on chromosome 13q12, which codes for connexin 26 and it is present on DFNB1 locus. 8,9 GJB2 is a small gene, and as such, analysis and checking for mutations is easy. For nonsyndromic congenital deaf patients, GJB2 gene analysis gives a good starting position for mutation study.…”

Section: Introductionmentioning

confidence: 99%

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Analysis of Genetic Variations in Connexin 26 (GJB2) Gene among Nonsyndromic Hearing Impairment: Familial Study

Hegde

Kulkarni

et al. 2022

Glob Med Genet

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Objective The goal of this research was to investigate the gap junction beta 2 (GJB2) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. Materials and Methods For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study. The patient's DNA was isolated from peripheral blood samples. The GJB2 gene coding region was analyzed through Sanger sequencing. Results There is no changes in the first exon of the GJB2 gene. Nine different variants were recorded in second exon of the targeted gene. W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3′-UTR variants. A total (9/20) of 45% of families have been identified with mutations in the targeted gene. Conclusion GJB2 mutations were identified in 19 deaf-mute patients (19/35), and 13 patients were homozygous for the mutations identified in our study cohort. In our study, W24X mutation was found to be the pathogenic with a high percentage, prompting further evaluation of the other genes, along with the study of additional genetic or external causes in the families, which is essential.

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Section: Discussionmentioning

confidence: 99%

“… 7 GJB2 gene is present on chromosome 13q12, which codes for connexin 26 and it is present on DFNB1 locus. 8 9 …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Analysis of Genetic Variations in Connexin 26 (GJB2) Gene among Nonsyndromic Hearing Impairment: Familial Study

Hegde

Kulkarni

et al. 2022

Glob Med Genet

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“…Different investigations have suggested that SLC26A4 mutations are among the most frequent causes of genetic HL in the world populations, including Iranians (5). The genetic etiology of ARNSHL in Iran, has been shown by a number of independent studies with a special focus on DFNB1 (GJB2) (6)(7)(8)(9)(10)(11)(12), the most common cause of HL in the world (13)(14)(15). In the previous study, we showed that variants in the GJB2 (NM_004004.5) can explain the etiology of ARNSHL in 22.5% and 20% of patients from Isfahan and Hamedan provinces of Iran, suggesting that GJB2 gene mutations only represent a part of ARNSHL in the center and west of Iran (16).…”

Section: Introductionmentioning

confidence: 99%

Molecular diagnosis of <i>SLC26A4</i>-related hereditary hearing loss in a group of patients from two provinces of Iran

Koohiyan

Hashemzadeh‐Chaleshtori

2021

IRDR

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autosomal recessive non-syndromic hearing loss, SLC26A4, Iran, Pendred syndrome The SLC26A4 gene has been described as the second gene involved in most cases of autosomal recessive non-syndromic hearing loss (ARNSHL), after GJB2. Over 500 different SLC26A4 mutations have been reported, with each ethnic population having its own distinctive mutations. Here, we aimed to determine the frequency and mutation profile of the SLC26A4 gene from two different provinces (center and west) of Iran. This study included 50 nuclear families with two or more siblings segregating presumed ARNSHL. All affected tested negative for mutations in GJB2 at the DFNB1 locus and were therefore screened for autozygosity by descent using short tandem repeat polymorphisms (STRPs) of DFNB4. Sanger sequencing was performed to screen the 20 exons of the SLC26A4 gene for the families linked to this locus. In silico analyses were also performed using available software tools. Four out of 25 (16%) and 3 of 25 (12%) studied families of Isfahan and Hamedan provinces, respectively. were linked to DFNB4. Sanger sequencing led to the identification of six different mutations, one of which (c.919-2A>G) was recurrent and accounted for 31% of all mutant alleles. One out of 7 (14.3%) families with mutations were confirmed to be Pendred syndrome (PS). The SLC26A4 mutations have a high carrying rate in ARNSHL Iranian patients. The identification of a disease causing mutation can be used to establish a genotypic diagnosis and provide important information to the patients and their families.

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Identification and clinical implications of a novel pathogenic variant in the <i>GJB2</i> gene causes autosomal recessive non-syndromic hearing loss in a consanguineous Iranian family

Cited by 2 publications

References 25 publications

Analysis of Genetic Variations in Connexin 26 (GJB2) Gene among Nonsyndromic Hearing Impairment: Familial Study

Analysis of Genetic Variations in Connexin 26 (GJB2) Gene among Nonsyndromic Hearing Impairment: Familial Study

Molecular diagnosis of <i>SLC26A4</i>-related hereditary hearing loss in a group of patients from two provinces of Iran

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