A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

Riahi, Zied; Chahed, H.; Jaafoura, H.; Zainine, R.; Messaoud, Olfa; Naili, M.N. Natasya; Nagara, Majdi; Hammami, H; Laroussi, Nadia; Bouyacoub, Yosra; Kéfi, Rym; Bonnet, Crystel; Besbes, G.; Abdelhak, Sonia

doi:10.1016/j.ijporl.2013.06.015

Cited by 3 publications

(2 citation statements)

References 26 publications

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“…In the same way, knowing the gene or the mutation is also fundamental for implementing efficient therapy. Indeed, improved cochlear implant outcomes have been observed among deaf Tunisian individuals for whom the hearing loss is related to GJB2 mutations and who were implanted at an early age [89,90]. Drugs targeting mutations are an innovative therapeutic approach in cystic fibrosis (CF) [91,92].…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Mezzi

Messaoud

Mkaouar

et al. 2021

Genes

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Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

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Section: Discussionmentioning

confidence: 99%

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Mezzi

Messaoud

Mkaouar

et al. 2021

Genes

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“…Mutations in GJB2 , the gene most frequently involved in autosomal recessive deafness in Tunisia [10]–[12], and mutations in other DFNB genes that had previously been reported in Tunisian deaf patients (Table S1) were first excluded by PCR and Sanger sequencing of these genes in the patients.…”

Section: Resultsmentioning

confidence: 99%

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

et al. 2014

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Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families.

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A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

et al. 2022

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Hearing impairment is one of the most widespread inheritable sensory disorder affecting at least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are non‐syndromic. To provide comprehensive update of monogenic causes of non‐syndromic hearing loss (NSHL), literature search has been carried out with appropriate keywords in the following databases–PubMed, Google Scholar, Cochrane library, and Science Direct. Out of 2214 papers, 271 papers were shortlisted after applying inclusion and exclusion criterion. Data extracted from selected papers include information about gene name, identified pathogenic variants, ethnicity of the patient, age of onset, gender, title, authors' name, and year of publication. Overall, pathogenic variants in 98 different genes have been associated with NSHL. These genes have important role to play during early embryonic development in ear structure formation and hearing development. Here, we also review briefly the recent information about diagnosis and treatment approaches. Understanding pathogenic genetic variants are helpful in the management of affected and may offer targeted therapies in future.

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A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

Cited by 3 publications

References 26 publications

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

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