Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/2/178 |
| _version_ | 1797298125699809280 |
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| author | Maria Agustina De Rosa Maria T. Bernardi Soledad Kleppe Katherina Walz |
| author_facet | Maria Agustina De Rosa Maria T. Bernardi Soledad Kleppe Katherina Walz |
| author_sort | Maria Agustina De Rosa |
| collection | DOAJ |
| description | 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</i>/<i>GJB6</i> 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. |
| first_indexed | 2024-03-07T22:31:21Z |
| format | Article |
| id | doaj.art-22660eeb64f6424eac143f1bdd311879 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-07T22:31:21Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-22660eeb64f6424eac143f1bdd3118792024-02-23T15:17:44ZengMDPI AGGenes2073-44252024-01-0115217810.3390/genes15020178Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin AmericaMaria Agustina De Rosa0Maria T. Bernardi1Soledad Kleppe2Katherina Walz3Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, ArgentinaInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, ArgentinaDepartment of Clinical Pediatrics, Hospital Italiano de Buenos Aires, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, ArgentinaInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, ArgentinaCongenital 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</i>/<i>GJB6</i> 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.https://www.mdpi.com/2073-4425/15/2/178sensorineural hearing lossgeneticsdiagnosisLatin America |
| spellingShingle | Maria Agustina De Rosa Maria T. Bernardi Soledad Kleppe Katherina Walz Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America Genes sensorineural hearing loss genetics diagnosis Latin America |
| title | Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America |
| title_full | Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America |
| title_fullStr | Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America |
| title_full_unstemmed | Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America |
| title_short | Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America |
| title_sort | hearing loss genetic testing current advances and the situation in latin america |
| topic | sensorineural hearing loss genetics diagnosis Latin America |
| url | https://www.mdpi.com/2073-4425/15/2/178 |
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