Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina

Abstract:  Non-syndromicsensorineural hearing loss (NSSHL) is the most common sensory disorder affecting approximately 460 million people worldwide. More than 50% of congenital/childhood cases are attributable to genetic causes, which highlights the importance of genetic testing in this cla...

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Autores principales: Reynoso , RA, Martin , MA, Bustamante , MF, Barteik , ME, Curet , CA
Formato: Artículo revista
Publicado: Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2021
Materias:
Epidemiology
Genetics
Deafness
Neurosensory
Nosyndromic
epidemiologia
Genética
Hipoacusias
Neurosensoriales
Nosindrómicas
Mutaciones
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/34880
Aporte de:
Revista de la Facultad de Ciencias Médicas de Córdoba de Universidad Nacional de Córdoba
id I10-R327-article-34880
record_format ojs
spelling I10-R327-article-348802024-04-15T16:19:09Z Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina Claros y oscuros en la genética de las hipoacusia neurosensoriales no sindrómicas en la población infantil de argentina Reynoso , RA Martin , MA Bustamante , MF Barteik , ME Curet , CA Epidemiology Genetics Deafness Neurosensory Nosyndromic epidemiologia Genética Hipoacusias Neurosensoriales Nosindrómicas Mutaciones Abstract:  Non-syndromicsensorineural hearing loss (NSSHL) is the most common sensory disorder affecting approximately 460 million people worldwide. More than 50% of congenital/childhood cases are attributable to genetic causes, which highlights the importance of genetic testing in this class of disorders. Here we apply a multi-step strategy for the molecular diagnosis of HNSNS in 125 patients, which included: (1) a clinical auditory evaluation of the patient, (2) molecular analysis of the OTOF, GJB2, GJB6, and MT-RNR1 genes, and (3) Whole exome sequencing (SEC) of the GJB2 gene in step 2 negative patients. Our approach led to the characterization of 50% of NSHL cases, confirming both the relevant role of mutations in the GJB2 genes (20% of cases) and OTOF (6% of cases), such as the high genetic heterogeneity of HNSNS. Furthermore, due to genetic findings, 4% of HNSNS patients have been re-diagnosed with NSSHL and auditory neuropathy. Finally, the SEC characterized 68% of patients with NSSHL, supporting the role of known disease genes. Overall, our approach proved effective in identifying Resumen:  La pérdida auditiva neurosensorial no sindrómica (HNSNS), es el trastorno sensorial más común y afecta a aproximadamente 460 millones de personas en todo el mundo. Más del 50% de los casos congénitos/infantiles son atribuibles a causas genéticas, lo que destaca la importancia de las pruebas genéticas en esta clase de trastornos. Aquí aplicamos una estrategia de varios pasos para el diagnóstico molecular de la HNSNS en 125 pacientes, que incluyó: (1) una evaluación clínica precisa, (2) el análisis molecular de los genes OTOF, GJB2, GJB6 y MT-RNR1 y (3) Secuenciación de exóma completo (SEC) del gen GJB2 en pacientes negativos al paso 2. Nuestro enfoque condujo a la caracterización del 50% de los casos de NSHL, confirmando tanto el papel relevante de las mutaciones en  GJB2 (20% de los casos) y OTOF (6% de los casos), y la alta heterogeneidad genética de las HNSNS. Además, debido a los hallazgos genéticos, el 4% de los pacientes con HNSNS han sido re-diagnosticados como HNSNS y neuropatía auditiva. Finalmente, SEC caracterizó al 68 % de los pacientes con HNSNS, lo que respalda el papel de los genes de la enfermedad ya conocidos. En general, nuestro enfoque demostró ser eficaz para identificar la causa molecular de las HNSNS, proporcionando información esencial para el manejo futuro de los pacientes. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2021-10-12 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion texto texto texto https://revistas.unc.edu.ar/index.php/med/article/view/34880 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 78 No. Suplemento (2021): Suplemento JIC XXII Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 78 Núm. Suplemento (2021): Suplemento JIC XXII Revista da Faculdade de Ciências Médicas de Córdoba; v. 78 n. Suplemento (2021): Suplemento JIC XXII 1853-0605 0014-6722 http://creativecommons.org/licenses/by-nc/4.0
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-327
container_title_str Revista de la Facultad de Ciencias Médicas de Córdoba
format Artículo revista
topic Epidemiology
Genetics
Deafness
Neurosensory
Nosyndromic
epidemiologia
Genética
Hipoacusias
Neurosensoriales
Nosindrómicas
Mutaciones
spellingShingle Epidemiology
Genetics
Deafness
Neurosensory
Nosyndromic
epidemiologia
Genética
Hipoacusias
Neurosensoriales
Nosindrómicas
Mutaciones
Reynoso , RA
Martin , MA
Bustamante , MF
Barteik , ME
Curet , CA
Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
topic_facet Epidemiology
Genetics
Deafness
Neurosensory
Nosyndromic
epidemiologia
Genética
Hipoacusias
Neurosensoriales
Nosindrómicas
Mutaciones
author Reynoso , RA
Martin , MA
Bustamante , MF
Barteik , ME
Curet , CA
author_facet Reynoso , RA
Martin , MA
Bustamante , MF
Barteik , ME
Curet , CA
author_sort Reynoso , RA
title Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
title_short Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
title_full Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
title_fullStr Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
title_full_unstemmed Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
title_sort clear and dark in the genetics of nonsyndromicsensorineural hearing loss in the childhood population of argentina
description Abstract:  Non-syndromicsensorineural hearing loss (NSSHL) is the most common sensory disorder affecting approximately 460 million people worldwide. More than 50% of congenital/childhood cases are attributable to genetic causes, which highlights the importance of genetic testing in this class of disorders. Here we apply a multi-step strategy for the molecular diagnosis of HNSNS in 125 patients, which included: (1) a clinical auditory evaluation of the patient, (2) molecular analysis of the OTOF, GJB2, GJB6, and MT-RNR1 genes, and (3) Whole exome sequencing (SEC) of the GJB2 gene in step 2 negative patients. Our approach led to the characterization of 50% of NSHL cases, confirming both the relevant role of mutations in the GJB2 genes (20% of cases) and OTOF (6% of cases), such as the high genetic heterogeneity of HNSNS. Furthermore, due to genetic findings, 4% of HNSNS patients have been re-diagnosed with NSSHL and auditory neuropathy. Finally, the SEC characterized 68% of patients with NSSHL, supporting the role of known disease genes. Overall, our approach proved effective in identifying
publisher Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
publishDate 2021
url https://revistas.unc.edu.ar/index.php/med/article/view/34880
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first_indexed 2024-09-03T21:02:43Z
last_indexed 2024-09-03T21:02:43Z
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