INGEBI 02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
PESQUISA GENÉTICA EN PACIENTES CON HIPOACUSIA NO SINDRÓMICA EN LA ARGENTINA
Autor/es:
DALAMON V; ELGOYHEN AB
Lugar:
San Pablo, Brasil
Reunión:
Simposio; 1er Simposio de Estudios Avanzados en Audición; 2009
Resumen:
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Sensorineural hearing loss is the most prevalent sensory disorder in
developed countries. Approximately 50% of autosomal recessive non-syndromic
deafness is caused by mutations in the GJB2
and GJB6 genes. To date the genes
responsible for more than forty non-syndromic hearing impairments and over 140
loci involved in different forms of hearing loss have been identified. The
correct diagnose of the specific cause of hearing loss in an individual can
provide information concerning prognosis and is essential for the accurate
genetic counseling. The following is usually required: a three-generation
family history, a clinical examination looking for features associated with
syndromic deafness and an audiometric analysis to identify "candidate
genes" to analyze. In this presentation, we review the most common causes
of hearing loss, the current genetic studies and new promising cellular
therapies.
