Prevalence of <i>GJB2</i> Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss

Tlili, Abdelaziz; MuteryAbdullah, Al; MohamedWalaa, Kamal Eddine Ahmad; Mahfood, Mona; KacemHassen, Hadj

doi:10.1089/gtmb.2017.0130

Cited by 24 publications

(19 citation statements)

References 30 publications

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“…This leads to the alteration of the three-dimensional structure of the whole connexin 26 molecule [19]. Consequently, the inhibition of the interactions between connexons of neighboring cells would occur as well as proper anchoring of connexions in the membrane [20]. Accordingly, the interactions between the cells are affected due to the changes occurring in the connexin protein structures [19].…”

Section: Mutations In the Gjb2 Genementioning

confidence: 99%

The role of gene GJB2 and connexin 26 in hearing impairment

Missoum¹

2018

Ukr.Biochem.J

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Gap Junction Beta 2 (GJB2) gene mutations are the leading causes of hereditary hearing impairment. This gene encodes various gap junction proteins such as connexin 26 (Cx26), which facilitate K + homeostasis inside the cochlea in the inner ear. It is as well identified in non-syndromic deafness, which is not accompanied with other abnormalities in the body and contributes to 75% of the cases. The protein connexin 26 is composed of four transmembrane helices and two extracellular loops, in which each has three specific, highly preserved, cysteine residues held by intramolecular disulfide bridges. Moreover, 35delG and Cys169Tyr are the most common mutations of GJB2, where the former results in a shortened Cx26 protein due to the termination of coding sequence, and the latter leads to a destabilized protein structure as one of the three cysteine residuals that are affected. This short review gives further insights on how these two types of mutations lead to hearing loss.

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Section: Mutations In the Gjb2 Genementioning

confidence: 99%

The role of gene GJB2 and connexin 26 in hearing impairment

Missoum¹

2018

Ukr.Biochem.J

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“…There are mature gene panels for hearing-loss detection, and the genes involved range from 4 to more than 100. However, except for several genes, such as GJB2 [5][6][7] or SLC26A4 [8][9][10], most causal genes contribute a small fraction to the disorder. Therefore, in clinical detection, we may not obtain a satisfactory result by gene panel screening for many cases.…”

Section: Introductionmentioning

confidence: 99%

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Zhou

Tariq

et al. 2020

Preprint

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Background: Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50%-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all potential disease-causing genes for hereditary hearing loss by whole exome sequencing (WES).Methods: We collected 5 consanguineous pedigrees from Pakistan with hearing loss and applied WES in selected patients for each pedigree, followed by bioinformatics analysis and Sanger validation to identify the causal genes.Results: Variants in 7 genes were identified and validated in these pedigrees. We identified single candidate variant for 3 pedigrees: GIPC3 (c.937T>C), LOXHD1 (c.6136G>A) and TMPRSS3 (c.941T>C). The remaining 2 pedigrees each contained two candidate variants: TECTA (c.4045G>A) and MYO15A (c.3310G>T and c.9913G>C) for one pedigree and DFNB59 (c.494G>A) and TRIOBP (c.1952C>T) for the other pedigree. The candidate variants were validated in all available samples by Sanger sequencing.Conclusion: The candidate variants in hearing-loss genes were validated to be co-segregated in the pedigrees, and they may indicate the aetiologies of hearing loss in such patients. We also suggest that WES may be a suitable strategy for hearing-loss gene screening in clinical detection.

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“…ARNSHL is highly heterogeneous, with over 100 associated loci and >60 identified causative genes (http://hereditaryhearingloss.org/). GJB2 at the DFNB1 locus is responsible for 60% of all deafness cases, and over 100 GJB2 pathogenic variants have been reported with variable frequency among disparate world populations [2][3][4][5][6][7][8][9][10][11]. c.35delG accounts for >50% of GJB2-related NSHL in many western populations [12].…”

Section: Introductionmentioning

confidence: 99%

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

et al. 2019

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Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

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Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss

Abstract: The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.

Cited by 24 publications

References 30 publications

The role of gene GJB2 and connexin 26 in hearing impairment

The role of gene GJB2 and connexin 26 in hearing impairment

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

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