Unique spectrum of GJB2 mutations in Mexico

Arenas-Sordo, María de la Luz; Menéndez, Ibis; Hernández-Zamora, Edgar; Sırmacı, Aslı; Gutiérrez-Tinajero, Diana J.; McGetrick, Molly; Murphy-Ruiz, Paulina C.; Leyva-Juárez, Xolotl; Huesca-Hernández, Fabiola; Domínguez-Aburto, Juan; Tekin, Mustafa

doi:10.1016/j.ijporl.2012.08.005

Cited by 16 publications

(9 citation statements)

References 26 publications

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“…In African countries,[ 6 9 16 ] estimated prevalence ranged from 0.9% to 2%, in Asia[ 7 16 21 25 28 34 35 36 ] 0.09-17%, in the Polish[ 28 ] population 0.4% and in America[ 10 12 ] 1.85%. In a recent report[ 13 ] no patients with the mutation were found among Mexicans whereas prevalence estimates ranged as high as 17% in Chinese and Spanish populations. [ 24 29 32 35 ] A limited comparative study conducted in Iowa (USA) suggested no significant difference in the prevalence of MT-RNR1 mutations between NICU babies and the general population (1.85% vs.…”

Section: Discussionmentioning

confidence: 99%

“…Forty-two articles[ 3 6 7 9 10 11 12 13 16 17 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 ] (the others are as shown in Figure 2 ) addressed the prevalence/incidence of MT-RNR1 mutation in the populations with SNHL for which a range of 0% in Brazilian[ 30 ] and Argentine[ 32 ] subjects to 100% in 3 Spanish families[ 31 ] with aminoglycoside-induced hearing loss were presented. The modal prevalence was 3.2% and only A1555G and/or C1494T variants were assessed.…”

Section: Methodsmentioning

confidence: 99%

“…[ 1 2 3 4 5 6 7 ] Global reports have shown variations in the prevalence/incidence of MT-RNR1; however, the A1555G mutation (the first identified homoplasmic variant)[ 2 ] is frequent among families in Africa, Asia, Europe and America. [ 6 7 8 9 10 11 12 13 ] This mutation has a matrilineal inheritance and in one study a reported propensity in more than 50% of those affected to develop SNHL following exposure to aminoglycosides. [ 14 ] Sporadic development of hearing loss in those who carry this mutation without aminoglycoside exposure is rare.…”

Section: Introductionmentioning

confidence: 99%

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A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

Ibekwe¹,

Bhimrao²,

Westerberg³

et al. 2015

Afr J Paediatr Surg

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Background:This was a meta-analysis and systematic review to determine the global prevalence of the mitochondrially encoded 12S RNA (MT-RNR1) genetic mutation in order to assess the need for neonatal screening prior to aminoglycoside therapy.Materials and Methods:A comprehensive search of MEDLINE, EMBASE, Ovid, Database of Abstracts of Reviews of Effect, Cochrane Library, Clinical Evidence and Cochrane Central Register of Trials was performed including cross-referencing independently by 2 assessors. Selections were restricted to human studies in English. Meta-analysis was done with MetaXL 2013.Results:Forty-five papers out of 295 met the criteria. Pooled prevalence in the general population for MT-RNR1 gene mutations (A1555G, C1494T, A7445G) was 2% (1–4%) at 99%.Conclusion:Routine screening for MT-RNR1 mutations in the general population prior to treatment with aminoglycosides appear desirable but poorly supported by the weak level of evidence available in the literature. Routine screening in high-risk (Chinese and Spanish) populations appear justified.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

Ibekwe¹,

Bhimrao²,

Westerberg³

et al. 2015

Afr J Paediatr Surg

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“…In populations from East Asia, such as Japan, China, and Korea, the c.235delC variant is the most common mutation [9,10,11,12]. In Latin American populations, such as Argentina and Mexico, c.35delG is the most common variant [13,14]. Around 1.8% of the Peruvian population have significant HL, of whom up to 11% of cases are congenital [15].…”

Section: Introductionmentioning

confidence: 99%

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

Figueroa-Ildefonso

Bademci

Rajabli

et al. 2019

Genes

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: Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic variants in the GJB2 gene are a major cause of congenital non-syndromic hearing loss (NSHL), while their distribution is highly heterogeneous in different populations. To the best of our knowledge, there is no data regarding the genetic etiologies of HL in Peru. In this study, we screened 133 Peruvian families with NSHL living in Lima. We sequenced both exons of the GJB2 gene for all probands. Seven probands with familial NSHL that remained negative for GJB2 variants underwent whole genome sequencing (WGS). We identified biallelic pathogenic variants in GJB2 in 43 probands; seven were heterozygous for only one allele. The c.427C>T variant was the most common pathogenic variant followed by the c.35delG variant. WGS revealed three novel variants in MYO15A in two probands, one of them was predicted to affect splicing and the others produce a premature stop codon. The Peruvian population showed a complex profile for genetic variants in the GJB2 gene, this particular profile might be a consequence of the admixture history in Peru.

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“…The p.Val27Ile polymorphism has been reported as the most common variant of GJB2 gene in several studies [12][13][14][15][16][18][19][20][21][22][23][24][25]. It occurs in the first transmembrane domain of connexin-26 and it involves the conversion of a valine codon (evolutionarily conserved), to an isoleucine codon (Val27Ile).…”

Section: Introductionmentioning

confidence: 99%

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

Sánchez

Alfaro-Rodríguez

Poblano

2014

International Journal of Medical Genetics

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The mutations in the GJB2 gene are the most common cause of nonsyndromic hearing impairment and they are associated with the population's ethnic background. The p.Val27Ile is frequent in both Asia and America. In this retrospective study, we report the findings from the GJB2 screening and the audiological exams conducted on 125 Mexican mestizo patients with non-syndromic hearing impairment; they were treated at the Instituto Nacional de Rehabilitacion in Mexico City. The most frequent audiometric findings were bilateral, symmetrical, and profound hearing impairment. The allele frequencies in the GJB2 screening were p.Val27Ile 15%, other mutations 5%, and wild type 80%. We found no correlation between GJB2 genotype and auditory phenotype. The high allele frequency of p.Val27Ile was a very interesting finding. Our research suggests that p.Val27Ile arose in an ancient common ancestor who lived in Altai Republic and then the polymorphism was brought to America by its first inhabitants, the Amerindians. These results enhance our understanding of the peopling of the America, which remains unresolved.

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Unique spectrum of GJB2 mutations in Mexico

Cited by 16 publications

References 26 publications

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

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