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Original Article

Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

Aspectos audiológicos y vestibulares en sujetos afectados con USH3: una correlación de genotipo/fenotipo

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Pages 307-316 | Received 29 Mar 2004, Published online: 07 Jul 2009
 

Abstract

The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.

Aspectos audiológicos y vestibulares en sujetos afectados con USH3: una correlación de genotipo/fenotipo.

Sumario

Los objetivos del estudio buscaron comparar las relaciones de genotipo/fenotipo entre las mutaciones USH3 y el fenotipo auditivo y vestibular consecuente; y comparar la progresión de la hipoacusia (HL) entre los tipos IB, IIA y USH3 del síndrome de Usher. Se realizaron exámenes genéticos, audiométricos y vestibulares en 28 sujetos con USH3. Se identificaron cinco diferentes mutaciones en el USH3. En el 35% de los sujetos con USH3 existía una HL desde edades tempranas (4 a 6 años). La progresión de la HL inicia en la primera década, y aproximadamente el 50% de los sujetos con USH3 se convierten en sordos profundos a la edad de 40 años. Se encontraron varias anormalidades vestibulares en alrededor de la mitad (10/22) de los sujetos con USH3 evaluados. Dependiendo de la severidad de la HL, los sujetos con USH3 podrían ser mal diagnosticados como Usher tipo IB o IIA. Los resultados de este estudio pueden ser utilizados como rasgos distintivos en el diagnóstico diferencial de este síndrome.

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