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


ABSTRACT: 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.

SUBMITTER: De Rosa MA 

PROVIDER: S-EPMC10888486 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

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

De Rosa Maria Agustina MA   Bernardi Maria T MT   Kleppe Soledad S   Walz Katherina K  

Genes 20240129 2


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 <i>GJB2</  ...[more]

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