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 Cba. 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:
Revistas de la UNC de Universidad Nacional de Córdoba
id I10-R10article-34880
record_format ojs
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-10
container_title_str Revistas de la UNC
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 Cba. 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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