Congenital hearing loss: a literature review of the genetic etiology in a Mexican population
Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss...
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| Format: | Article |
| Language: | English |
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Permanyer
2022-10-01
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| Series: | Boletín Médico del Hospital Infantil de México |
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| Online Access: | https://www.bmhim.com/frame_esp.php?id=315 |
| _version_ | 1798000981944827904 |
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| author | Carlos De la Torre-González Dina Villanueva-García Constanza García-Delgado Salvador Castillo-Castillo Marisol Huante-Guido Josefina Chichitz-Madrigal María E. Juárez-Torres Ana L. Sánchez-Sandoval Eira V. Barrón-Palma Verónica F. Morán-Barroso |
| author_facet | Carlos De la Torre-González Dina Villanueva-García Constanza García-Delgado Salvador Castillo-Castillo Marisol Huante-Guido Josefina Chichitz-Madrigal María E. Juárez-Torres Ana L. Sánchez-Sandoval Eira V. Barrón-Palma Verónica F. Morán-Barroso |
| author_sort | Carlos De la Torre-González |
| collection | DOAJ |
| description | Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population.
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| first_indexed | 2024-04-11T11:28:50Z |
| format | Article |
| id | doaj.art-0dabe409cafd42d4819f400ce49b8dad |
| institution | Directory Open Access Journal |
| issn | 0539-6115 |
| language | English |
| last_indexed | 2024-04-11T11:28:50Z |
| publishDate | 2022-10-01 |
| publisher | Permanyer |
| record_format | Article |
| series | Boletín Médico del Hospital Infantil de México |
| spelling | doaj.art-0dabe409cafd42d4819f400ce49b8dad2022-12-22T04:26:12ZengPermanyerBoletín Médico del Hospital Infantil de México0539-61152022-10-0179410.24875/BMHIM.21000186Congenital hearing loss: a literature review of the genetic etiology in a Mexican populationCarlos De la Torre-González0Dina Villanueva-García1Constanza García-Delgado2Salvador Castillo-Castillo3Marisol Huante-Guido4Josefina Chichitz-Madrigal5María E. Juárez-Torres6Ana L. Sánchez-Sandoval7Eira V. Barrón-Palma8Verónica F. Morán-Barroso9Departamento de Otorrinolaringología, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartamento de Neonatología, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartamento de Genética, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartamento de Audiología y Foniatría, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartamento de Otorrinolaringología, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartamento de Audiología y Foniatría, Hospital Infantil de México Federico Gómez, Mexico City, MexicoServicio de Medicina Genómica, Hospital General de México Dr. Eduardo Liceaga, Mexico City, MexicoServicio de Genética, Hospital General de México Dr. Eduardo Liceaga. Mexico City, MexicoServicio de Medicina Genómica, Hospital General de México Dr. Eduardo Liceaga, Mexico City, MexicoServicio de Genética, Hospital General de México Dr. Eduardo Liceaga. Mexico City, MexicoHearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population. https://www.bmhim.com/frame_esp.php?id=315Congenital hearing loss. Congenital deafness. Mexican population. GJB2. GJB6. |
| spellingShingle | Carlos De la Torre-González Dina Villanueva-García Constanza García-Delgado Salvador Castillo-Castillo Marisol Huante-Guido Josefina Chichitz-Madrigal María E. Juárez-Torres Ana L. Sánchez-Sandoval Eira V. Barrón-Palma Verónica F. Morán-Barroso Congenital hearing loss: a literature review of the genetic etiology in a Mexican population Boletín Médico del Hospital Infantil de México Congenital hearing loss. Congenital deafness. Mexican population. GJB2. GJB6. |
| title | Congenital hearing loss: a literature review of the genetic etiology in a Mexican population |
| title_full | Congenital hearing loss: a literature review of the genetic etiology in a Mexican population |
| title_fullStr | Congenital hearing loss: a literature review of the genetic etiology in a Mexican population |
| title_full_unstemmed | Congenital hearing loss: a literature review of the genetic etiology in a Mexican population |
| title_short | Congenital hearing loss: a literature review of the genetic etiology in a Mexican population |
| title_sort | congenital hearing loss a literature review of the genetic etiology in a mexican population |
| topic | Congenital hearing loss. Congenital deafness. Mexican population. GJB2. GJB6. |
| url | https://www.bmhim.com/frame_esp.php?id=315 |
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