Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene

The recessive c.35delG mutation in the GJB2 gene is one of the most common mutations associated with non-syndromic sensorineural hearing loss (NSHL). This nonsense mutation knocks out the function of the connexin 26 protein in the inner ear, which is crucial for normal hearing. This hearing los...

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Autores principales: Reynoso, RA, Curet, CA, Salvadores, MI, Quinteros, F, Sembaj, A, Del Castillo, I
Formato: Artículo revista
Lenguaje:Español
Publicado: Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2023
Materias:
Hearing loss
postlingual
progressive
GJB2
c.35delG
Hipoacusia
postlocutiva
progresiva
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/42671
Aporte de:
Revista de la Facultad de Ciencias Médicas de Córdoba de Universidad Nacional de Córdoba
id I10-R327-article-42671
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institution Universidad Nacional de Córdoba
institution_str I-10
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container_title_str Revista de la Facultad de Ciencias Médicas de Córdoba
language Español
format Artículo revista
topic Hearing loss
postlingual
progressive
GJB2
c.35delG
Hipoacusia
postlocutiva
progresiva
GJB2
c.35delG
spellingShingle Hearing loss
postlingual
progressive
GJB2
c.35delG
Hipoacusia
postlocutiva
progresiva
GJB2
c.35delG
Reynoso, RA
Curet, CA
Salvadores, MI
Quinteros, F
Sembaj, A
Del Castillo, I
Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene
topic_facet Hearing loss
postlingual
progressive
GJB2
c.35delG
Hipoacusia
postlocutiva
progresiva
GJB2
c.35delG
author Reynoso, RA
Curet, CA
Salvadores, MI
Quinteros, F
Sembaj, A
Del Castillo, I
author_facet Reynoso, RA
Curet, CA
Salvadores, MI
Quinteros, F
Sembaj, A
Del Castillo, I
author_sort Reynoso, RA
title Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene
title_short Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene
title_full Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene
title_fullStr Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene
title_full_unstemmed Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene
title_sort audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delg mutation in the gjb2 gene
description The recessive c.35delG mutation in the GJB2 gene is one of the most common mutations associated with non-syndromic sensorineural hearing loss (NSHL). This nonsense mutation knocks out the function of the connexin 26 protein in the inner ear, which is crucial for normal hearing. This hearing loss caused by the c.35delG mutation appears in variable degree, but is generally stable, expressing in moderate to profound level. We carried out audiological follow-up of individuals homozygous for the recessive mutation c.35delG in the family with NSHL. DNA was extracted from the venous blood of four members of the family affected by NSHL after signing the informed consent. The presence of the c.35delG mutation in the homozygous state was detected using the PCR-RFLP molecular biology technique. The patients were evaluated with pure tone audiometry in order to establish the genotype-phenotype correlation. Analysis of the audiological data and follow-up of the NSHL in the four affected c.35delG homozygous individuals showed complete penetrance, but variable expressivity. In two sisters of the family, with the same genotype, the expressivity of the NSHL was different from the rest of their other two relatives, two paternal uncles who were profoundly deaf and prelingual. The sisters presented mild, late-onset and progressive hearing loss, affecting frequencies starting at 1000 Hz in an incipient manner and acute in a mild manner, with a gentle slope in tonal audiometry and little displacement in speech audiometry. Both sisters were diagnosed with NSHL after 5 years of age. Therefore, c.35delG homozygous individuals with postlingual onset NSHL would pass neonatal hearing screening. This would delay diagnosis and treatment of your permanent hearing loss.
publisher Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
publishDate 2023
url https://revistas.unc.edu.ar/index.php/med/article/view/42671
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spelling I10-R327-article-426712023-10-19T21:20:03Z Audiological follow-up of non-syndromic sensorineural hearing loss in patients homozygous for the c.35delG mutation in the GJB2 gene Seguimiento audiológico de la hipoacusia neurosensorial no sindrómica a pacientes homocigotas para la mutación c.35delG en el gen GJB2 Reynoso, RA Curet, CA Salvadores, MI Quinteros, F Sembaj, A Del Castillo, I Hearing loss postlingual progressive GJB2 c.35delG Hipoacusia postlocutiva progresiva GJB2 c.35delG The recessive c.35delG mutation in the GJB2 gene is one of the most common mutations associated with non-syndromic sensorineural hearing loss (NSHL). This nonsense mutation knocks out the function of the connexin 26 protein in the inner ear, which is crucial for normal hearing. This hearing loss caused by the c.35delG mutation appears in variable degree, but is generally stable, expressing in moderate to profound level. We carried out audiological follow-up of individuals homozygous for the recessive mutation c.35delG in the family with NSHL. DNA was extracted from the venous blood of four members of the family affected by NSHL after signing the informed consent. The presence of the c.35delG mutation in the homozygous state was detected using the PCR-RFLP molecular biology technique. The patients were evaluated with pure tone audiometry in order to establish the genotype-phenotype correlation. Analysis of the audiological data and follow-up of the NSHL in the four affected c.35delG homozygous individuals showed complete penetrance, but variable expressivity. In two sisters of the family, with the same genotype, the expressivity of the NSHL was different from the rest of their other two relatives, two paternal uncles who were profoundly deaf and prelingual. The sisters presented mild, late-onset and progressive hearing loss, affecting frequencies starting at 1000 Hz in an incipient manner and acute in a mild manner, with a gentle slope in tonal audiometry and little displacement in speech audiometry. Both sisters were diagnosed with NSHL after 5 years of age. Therefore, c.35delG homozygous individuals with postlingual onset NSHL would pass neonatal hearing screening. This would delay diagnosis and treatment of your permanent hearing loss. La mutación recesiva c.35delG en el gen GJB2 es una de las mutaciones más comunes asociadas con la hipoacusia neurosensorial no sindrómica (HNSNS). Esta mutación afecta la función de la proteína conexina 26, que es crucial para la función normal del oído interno y la transmisión de señales auditivas al cerebro. La HNSNS causada por la mutación c.35delG puede ser variable en términos de grado, pero generalmente es de moderada a profunda.  Nos propusimos realizar el seguimiento audiológico a los individuos homocigotos para la mutación recesiva c.35delG a una familia con HNSNS. Luego de firmar el consentimiento informado, se extrajo el ADN a partir de sangre venosa a cuatro integrantes de una misma familia afectados de HNSNS. La presencia de la mutación c.35delG en estado homocigota se detectó mediante la técnica de biología molecular PCR-RFLP. Para poder establecer la correlación genotipo-fenotipo los pacientes fueron evaluados con audiometría de tono puro y los datos se analizaron mediante estadística descriptiva. El análisis de los datos audiológicos y seguimiento de la HNSNS en los cuatro individuos homocigotos c.35delG afectados fue de penetrancia completa pero de expresividad variable. En dos hermanas de la familia, ante un mismo genotipo, la expresividad de la HNSNS fue diferente al resto de sus otros dos familiares tíos paternos que eran sordos profundos y prelocutivos. Las hermanas presentaban hipoacusia leve, de aparición tardía y progresiva afectando las frecuencias a partir de 1000 Hz en forma incipiente y agudas en forma leve, con una suave pendiente en la audiometría tonal y escaso desplazamiento en la logoaudiometría. El diagnóstico de la HNSNS en las dos hermanas fue después de los 5 años de edad. La progresión de la hipoacusia en una de las hermanas fue muy lenta y con 46 años de edad usa audífonos, posee hipoacusia asimétrica y calificaría para implante unilateral. Este tipo de hipoacusia de manifestación tardía pasaría la prueba del cribado auditivo neonatal. Planteamos la necesidad de realizar el cribado genético y auditivo en todos los recién nacidos para poder detectar mutaciones que causan hipoacusias postlocutivas. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2023-10-19 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/42671 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 80 (2023): Suplemento JIC XXIV Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 80 (2023): Suplemento JIC XXIV Revista da Faculdade de Ciências Médicas de Córdoba; v. 80 (2023): Suplemento JIC XXIV 1853-0605 0014-6722 spa https://revistas.unc.edu.ar/index.php/med/article/view/42671/42895 Derechos de autor 2023 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0

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