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Anales de Otorrinolaringología Mexicana

2020, Número 1

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Otorrinolaringología 2020; 65 (1)


Hipoacusia no sindrómica de origen genético. Conceptos actuales

Arenas-Sordo ML, Linares-Mendoza EP, Peñuelas-Romero KJ, Castro-Peña S, Agís-Ocaña JG

Idioma: Español
Referencias bibliográficas: 79
Paginas: 43-58
Archivo PDF: 267.21 Kb.


RESUMEN

La hipoacusia neurosensorial es el déficit sensorial más frecuente. Por lo general, no es sindrómica y tiene causa genética. Suele ser secundaria a herencia mendeliana (autosómica y ligada al cromosoma X). En general, el tipo y el inicio de la hipoacusia neurosensorial nos guían al patrón dominante o recesivo. El dominante generalmente es poslingual y progresivo; mientras que el autosómico recesivo es prelingual, no progresivo y de severo a profundo. Las diferentes hipoacusias neurosensoriales autosómicas dominantes forman un grupo llamado DFNA, con diferentes números según el subtipo (genes) de hipoacusia neurosensorial. En los casos recesivos, DFNB también con diferentes números y de la misma manera las hipoacusias neurosensoriales ligadas al cromosoma X como DFNX. Con las herramientas genéticas recientes, como la secuenciación de nueva generación, para la identificación de genes que causan hipoacusia neurosensorial, se han encontrado y caracterizado al menos 120 genes, pero estamos lejos del final, todavía hay muchos genes por descubrir; en alrededor de 50% de los pacientes no logramos el diagnóstico etiológico, no podemos encontrar el gen o genes que están implicados. Las mutaciones y variantes no son las mismas en todas las poblaciones, por lo que es necesario estudiar a pacientes de diferentes orígenes.


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