Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population

Objectives: Define the extent to which GJB2-related hearing loss is responsible for non-syndromic hearing loss (NSHL) in the Latino population. Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PubMed and MEDLINE were accessed from 1966 to 2019 using permutations of the MeSH terms: “Hearing Loss,” “Hearing Impairment,” “Deafness,” “Latin American,” “Latino,” “GJB2,” and “Genetic.” Additionally, countries designated as Latino by the US Office of Management and Bureau were cross-referenced as key terms against the aforementioned search criteria. Exclusion criteria included non-English publications, a non-Latino study population, and literature not investigating GJB2. An allele frequency analysis of pathogenic GJB2 variants in the Latino population was performed and stratified by country of origin and reported ethnicity. Results: One hundred twenty two unique studies were identified of which 64 met our inclusion criteria. Forty three studies were included in the GJB2 systematic review. A total of 38 pathogenic GJB2 variants were identified across 20 countries in the Latino population. The prevalence of pathogenic GJB2 variants varied by country; however, were generally uncommon with the exception of c.35delG (p.Gly12Valfs∗) which displayed an allele frequency of 3.1% in the combined Latino population; ranging from 21% in Colombia to 0% in Guatemala. Conclusion: Variation in the prevalence of pathogenic GJB2 variants by country likely reflect the heterogeneous nature of ethnic ancestral contributions to the Latino population. Additional research utilizing next generation sequencing might aid in the development of assays for high throughput diagnosis of inherited hearing loss in the multitude of ethnic sub-groups that comprise this and other traditionally marginalized populations.

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Systematic Review of Pathogenic GJB2 Variants in the Latino Population

Bouzaher

Worden

Jeyakumar

2020

Otology &Amp; Neurotology

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Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population

Abstract: This study detected previously unclassified variants and one case of previously unreported compound heterozygosity.

Cited by 1 publication

References 26 publications

Systematic Review of Pathogenic GJB2 Variants in the Latino Population

Systematic Review of Pathogenic GJB2 Variants in the Latino Population

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