GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico

Hernández-Juárez, Aideé Alejandra; Lugo-Trampe, José de Jesús; Campos-Acevedo, Luis Daniel; Lugo‐Trampe, Ángel; Treviño‐González, José Luis; de-la-Cruz-Ávila, Israel; Martínez-de-Villarreal, Laura Elia

doi:10.1016/j.ijporl.2014.09.016

Cited by 11 publications

(10 citation statements)

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“…This gene had a 3.35% carrier frequency in our population, with c.35deIG being the most common found variant (37%). Our finding is similar to the reported 2.14% carrier frequency in northeastern populations of Mexico, and that study also found the most common variant to be c.35deIG …”

Section: Discussionsupporting

confidence: 92%

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population

et al. 2020

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Objective: Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier status of selected genetic conditions utilizing an expanded, pan-ethnic genetic carrier screening panel (ECS) in a large population of Mexican patients.Methods: Retrospective chart review of all patients tested with a single ECS panel at an international infertility center from 2012 to 2018 were included, and the prevalence of positive carrier status in a Mexican population was evaluated.Results: Eight hundred five individuals were analyzed with ECS testing for 283 genetic conditions. Three hundred fifty-two carriers (43.7%) were identified with 503 pathogenic variants in 145 different genes. Seventeen of the 391 participating couples (4.34%) were identified as being at-risk couples. The most prevalent alleles found were associated with alpha thalassemia, cystic fibrosis, GJB2 nonsyndromic hearing loss, biotinidase deficiency, and familial Mediterranean fever.Conclusion: Based on the prevalence and severity of Mendelian disorders, we recommend that couples who wish to conceive regardless of their ethnicity background explore carrier screening and genetic counseling prior to reproductive medical treatment.

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Section: Discussionsupporting

confidence: 92%

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population

et al. 2020

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“…We also detected a GJB2 variant that is highly prevalent in LAT p.(G12C) (c.34G>T) (frequency = 3.79 × 10 −3 ); Fig. 2b, which was reported previously in North American studies in individuals with unreported ethnic background [35,36], and also individuals of Mexican origin [34]. It was suggested that this variant occurs in the US due to Mexican immigration [34].…”

Section: Discussionsupporting

confidence: 80%

“…2b, which was reported previously in North American studies in individuals with unreported ethnic background [35,36], and also individuals of Mexican origin [34]. It was suggested that this variant occurs in the US due to Mexican immigration [34]. Based on the large number of Mexicans in the LAT gnomAD cohort and its frequency here (3.79 × 10 −3 ), p.(G12C) might be an indigenous Mexican founder variant.…”

Section: Discussionsupporting

confidence: 74%

“…The low prevalence due to known ARNSHI variants might be attributable to the fact that most HI studies include few Latino participants [33]. Based on reports from single families and small studies, variants such as GJB2 p.(G12fs) (c.35delG) and p.(R216fs) (c.645delTAGA) [34] are most commonly associated with HI in Hispanic and Latino populations [33]. We found that GJB2, TMPRSS3, and OTOF are the most prevalent ARNSHI genes in the LAT gnomAD population.…”

Section: Discussionmentioning

confidence: 99%

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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Chakchouk

Zhang

et al. 2019

Eur J Hum Genet

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Hearing impairment (HI) is characterized by extensive genetic heterogeneity. To determine the population-specific contribution of known autosomal recessive nonsyndromic (ARNS)HI genes and variants to HI etiology; pathogenic and likely pathogenic (PLP) ARNSHI variants were selected from ClinVar and the Deafness Variation Database and their frequencies were obtained from gnomAD for seven populations. ARNSHI prevalence due to PLP variants varies greatly by population ranging from 96.9 affected per 100,000 individuals for Ashkenazi Jews to 5.2 affected per 100,000 individuals for Africans/African Americans. For Europeans, Finns have the lowest prevalence due to ARNSHI PLP variants with 9.5 affected per 100,000 individuals. For East Asians, Latinos, non-Finish Europeans, and South Asians, ARNSHI prevalence due to PLP variants ranges from 17.1 to 33.7 affected per 100,000 individuals. ARNSHI variants that were previously reported in a single ancestry or family were observed in additional populations, e.g., USH1C p.(Q723*) reported in a Chinese family was the most prevalent pathogenic variant observed in gnomAD for African/African Americans. Variability between populations is due to how extensively ARNSHI has been studied, ARNSHI prevalence and ancestry specific ARNSHI variant architecture which is impacted by population history. Our study demonstrates that additional gene and variant discovery studies are necessary for all populations and particularly for individuals of African ancestry.

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“…The c.235delC mutation rate was 18.16% in 1680 cases of Chinese NSHL patients from 13 provinces. Hearing loss related to single-site mutations is relatively infrequent and is unlikely to account for the heterogeneity of a disorder like hearing loss[ 64 ]. In this study, 2693 neonates were found to carry 235delC mutations (1.9% of all cases), and we found that c.235delC alleles are the most frequent compound mutations, accounting for 0.025% (36 cases) of all the neonates.…”

Section: Discussionmentioning

confidence: 99%

Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China

Zeng

Yang

et al. 2018

PLoS ONE

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Almost one third of the three million people in China suffering severe deafness are children, and 50% of these cases are believed to have genetic components to their etiology. Newborn hearing genetic screening can complement Universal Neonatal Hearing Screening for the diagnosis of congenital hearing loss as well as identifying children at risk for late-onset and progressive hearing impairment. The aim of this joint academic and Ministry of Health project was to prototype a cost effective newborn genetic screen in a community health setting on a city-wide level, and to ascertain the prevalence of variation at loci that have been associated with non-syndromic hearing loss. With the participation of 143 local hospitals in the city of Wuhan, China we screened 142,417 neonates born between May 2014 and Dec. 2015. The variants GJB2 c.235delC, SLC26A4 c.919-2A>G, and mitochondrial variants m.1555A>G and m.1494C>T were assayed using real time PCR. Newborns found to carry a variant were re-assayed by sequencing in duplicate. Within a subset of 707 newborns we assayed using real-time PCR and ARMS-PCR to compare cost, sensitivity and operating procedure. The most frequent hearing loss associated allele detected in this population was the 235delC variant in GJB2 gene. In total, 4289 (3.01%) newborns were found to carry at least one allele of either GJB2 c.235delC, SLC26A4 c.919-2A>G or two assayed MT-RNR1 variants. There was complete accordance between the real-time PCR and the ARMS PCR, though the real-time PCR had a much lower failure rate. Real-time PCR had a lower cost and operating time than ARMS PCR. Ongoing collaboration with the participating hospitals will determine the specificity and sensitivity of the association of the variants with hearing loss at birth and arising in early childhood, allowing an estimation of the benefits of newborn hearing genetic screening in a large-scale community setting.

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GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico

Cited by 11 publications

References 50 publications

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China

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