Hereditary Hearing Loss: Genetic Counselling

The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, the percentage of hereditary hearing loss is unknown. Genetic testing is the highest yielding test for evaluating patients with sensorineural hearing loss. The process of genetic counselling is intended to inform patients and their families of the medical, psychological, and familial implications of genetic diseases, as well as the risks, benefits and limitations of genetic testing. The implementation of any genetic analysis must be always preceded by an appropriate genetic counselling process. Hipoacusias hereditarias: asesoramiento genético Resumen El objetivo de esta revisión es proporcionar una visión actualizada de las hipoacusias hereditarias, prestando especial atención al diagnóstico etiológico de las hipoacusias neurosen-soriales, a los genes más frecuentemente mutados en nuestro medio, a las técnicas disponibles para su estudio y a las implicaciones clínicas del diagnóstico genético. Al menos el 60% de las hipoacusias neurosensoriales infantiles tienen una causa genética. En los adultos desconocemos el porcentaje de hipoacusias hereditarias. Ante una hipoacusia Documento descargado de http://www.elsevier.es el 09/04/2017. Copia para uso personal, se prohíbe la transmisión de este documento por cualquier medio o formato.