Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil

Cordeiro-Silva, Melissa de Freitas; Barbosa, Andressa; Santiago, M.I.; Provetti, Mariana; Rabbi-Bortolini, Eliete

doi:10.1590/s1808-86942010000400004

Cited by 13 publications

(4 citation statements)

References 44 publications

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“…35delG mutation takes place by deletion of one guanine (G) in a run of six guanines extending from position 30 to position 35 in the GJB2 gene causing a frameshift of the coding sequence leading to premature chain termination at the twelfth amino acid [9]. Other studies in small groups found that this variant is responsible for nonsyndromic recessive deafness in a Muslim-Israeli village in the lower Galilee [14].…”

Section: Discussionmentioning

confidence: 99%

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Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Kaheel¹,

Bress²,

Hassan³

et al. 2017

Genetics Research International

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Background Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%). Conclusion The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

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Section: Discussionmentioning

confidence: 99%

“…It is found in more than half of all GJB2 mutations discovered so far [9]. This mutation creates a frameshift resulting in a short nonfunctional truncated form of the protein [10].…”

Section: Introductionmentioning

confidence: 99%

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Kaheel¹,

Bress²,

Hassan³

et al. 2017

Genetics Research International

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“…In Argentina it was found that the c.35delG mutation is the most frequent cause of NSHL, with a frequency of 1.5% in heterozygotes, a little lower than the observed among the European populations [48,[94][95][96]. In Brazil, mutations in the GJB2 gene are the leading cause of deafness in autosomal recessive inheritance, and the c.35delG mutation is the most common variant in many ethnic groups [78], where 1 in 51 Caucasians (1.9%) carries the c.35delG mutation, aligning closely with the rates observed in most European populations [97]. Studies form several regions of Brazil indicates that the c.35delG mutation is very common, with prevalence that can range from 0.97%, in neonates in the state of Sao Paulo (identified in 1 out of 103 neonates) [98], to 12.4% overall, where this mutation was identified in 23% of familial cases and 6.2% of sporadic cases [99].…”

Section: Current Situation In Latin Americamentioning

confidence: 96%

“…[76,77]. In Brazil, by 2010, the incidence of hearing impairment was approximately 4 cases per 1000 births [78]. Environmental factors contribute to 80% of these cases, while genetic factors are responsible for the remaining 20% [79].…”

Section: Current Situation In Latin Americamentioning

confidence: 99%

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

De Rosa,

Bernardi,

Kleppe

et al. 2024

Genes

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Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every 1000 births, with ~50–60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.

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Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil

Esteves

Isaac

Francisco

et al. 2013

Eur Arch Otorhinolaryngol

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Mutations in the GJB2 gene, mainly 35delG, are responsible for most autosomal recessive inherited genetic hearing loss. The audiometric standard of these hearing losses remains inconsistent and other genes, such as GJB6, have been involved in association with GJB2. The objective of the study was to identify the deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) in patients heterozygous for 35delG/GJB2 and analyze the phenotype they present. 101 patients with mild to profound degree of sensorineural hypoacusis were evaluated. The allele-specific PCR technique was used to identify 35delG. The del(GJB6-D13S1830) and del(GJB6-D13S1854) were identified through the PCR multiplex technique. 90% of the subjects presented a normal genotype for the analyzed mutations; 6.93% were shown to be heterozygous for 35delG/GJB2 and 1% presented compound heterozygosis GJB2/GJB6). The data found reinforced the hypothesis of an interaction of more than one gene as the cause of autosomal recessive genetic hearing loss and emphasized the importance of an early diagnosis for appropriate intervention.

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Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil

Cited by 13 publications

References 44 publications

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil

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