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Original Article

Audiological findings in Usher syndrome types IIa and II (non-IIa)

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Pages 136-143 | Published online: 07 Jul 2009
 

Abstract

The aim was to define the natural history of hearing lossin Usher syndrome type IIa compared to non-IIa. Peoplewith Usher syndrome type II show moderate-to-severehearing loss, normal balance and retinitis pigmentosa.Several genes cause Usher syndrome type II. Our subjectsformed two genetic groups: (1) subjects with Usher syndrometype IIa with a mutation and/or linkage to theUsher IIa gene; (2) subjects with the Usher II phenotypewith no mutation and/or linkage to the Usher IIa gene.Four hundred and two audiograms of 80 Usher IIa subjectswere compared with 435 audiograms of 87 non-IIasubjects. Serial audiograms with intervals of ≥5 yearswere examined for progression in 109 individuals. Thosewith Usher syndrome type IIa had significantly worsehearing thresholds than those with non-IIa Usher syndromeafter the second decade. The hearing loss in Ushersyndrome type IIa was found to be more progressive, andthe progression started earlier than in non-IIa Usher syndrome.This suggests an auditory phenotype for Ushersyndrome type IIa that is different from that of other typesof Usher syndrome II. Thus, this is to our knowledgeone of the first studies showing a genotype-phenotypeauditory correlation.

Sumario

El objetivo de este estudio fue definir la historia naturalde la hipoacusia en el síndrome de Usher tipo IIa comparadocon el no-IIa. Las personas con s'ndrome deUsher tipo II, presentan hipoacusia moderada a severa,equilibrio normal y retinitis pigmentosa. Hay variosgenes causantes del síndrome de Usher tipo II. Nuestrossujetos formaron dos grupos genéticos: (1) sujetos consíndrome de Usher tipo IIa con una mutación y/o ligamientocon el gen del IIa; (2) sujetos con fenotipo UsherII, sin mutación y/o ligamiento con el gen del Usher IIa.402 audiogramas de 80 sujetos con Usher IIa fueroncomparados con 435 audiogramas de 87 sujetos con no-IIa. Se examinaron audiogramas seriados con intervalos of ≥5 años para ver la progresión en 109 individuos. Lospacientes con Usher tipo IIa tenían una hipoacusia signi-ficativamente mas profunda que aquellos con Usherno-IIa después de la segunda década. Se encontró que lahipoacusia del Usher tipo IIa es más progresiva y que laprogresión comienza más pronto que en el Usher no-IIa.Esto sugiere que el fenotipo auditivo del Usher tipo IIaes diferente que los otros tipos de síndrome de Usher II.Hasta donde sabemos, este es uno de los primeros estudiosque muestra una correlación de genotipo-fenotipoauditivo.

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