Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.

Prevalencia de alteraciones audiométricas y su relación con exposición a ruido ocupacional y extra ocupacional, en una cohorte de trabajadores de Santander, Colombia, Años 2014-2015

La hipoacusia neurosensorial inducida por ruido (HNIR) definida como la pérdida de la capacidad auditiva secundaria a la exposición ocupacional continua o intermitente a ruido en el lugar de trabajo, es la cuarta enfermedad ocupacional en prevalencia en Colombia. Objetivo: Determinar la prevalencia de alteraciones audiométricas y su relación con exposición a ruido ocupacional y extra ocupacional, en un grupo de trabajadores que asistieron a una IPS de la ciudad de Bucaramanga en el periodo comprendido entre agosto de 2014 y agosto de 2015. Diseño: Se realizó un estudio de corte transversal con 2725 registros de las historias clínicas de fonoaudiología realizadas a los trabajadores con audiometría tonal como parte de los exámenes ocupacionales, entre el 1 de agosto de 2014 al 31 de agosto de 2015, en una Institución Prestadora de Salud (IPS) ocupacional, en la ciudad de Bucaramanga, Santander. Resultados: El 17.2% de los trabajadores presentaron alteraciones audiométricas, de estos el 33,1%, cumplió con los criterios definidos en el estudio para ser calificados como casos probables de hipoacusia neurosensorial inducida por ruido, de estos el 87,8% fueron clasificados como leves, 10,8% como moderados y el 1,2% como moderado severo, no se registraron casos de HNIR severa o profunda. El 62,7% se clasificaron como no HNIR y el 4% correspondió a hipoacusias con afectación de frecuencias conversacionales. Conclusiones: Al aplicar un modelo de regresión logística para controlar las variables de confusión, no se encontró asociación con ninguna de las variables anteriormente descritas. A pesar de esto, existe suficiente evidencia de la relación entre algunas ocupaciones y la HNIR.

Canonical syllable reduplication in infants with sensorineural hearing loss. 'Reduplicación y mezcla de sílabas balbuceadas en niños con hipoacusia'.

Resumen en español. Resumen basado en el de la publicación

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