Define the extent to which GJB2
-related hearing loss
is responsible for non-syndromic hearing loss
(NSHL) in the Latino
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
,” “Latin American,” “Latino
,” 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.
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.
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.