Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.
Publicaciones de socios | Comisión de investigación
Otras publicaciones
Fecha de publicación
15/09/2021
Autores
Roman-Naranjo P, Moleon MDC, Aran I, Escalera-Balsera A, Soto-Varela A, Bächinger D, Gomez-Fiñana M, Eckhard AH, Lopez-Escamez JA.
Área de la especialidad
Datos bibliográficos
1. Roman-Naranjo P, Moleon MDC, Aran I, et al. Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hear Res. 2021;409:108329. doi:10.1016/j.heares.2021.108329
Abstract
Familial Meniere disease shows a co-segregation of rare variants in the MYO7A gene and other structural myosin VIIA binding proteins involved in the tip and ankle links of the hair cell stereocilia. We suggest that recessive digenic inheritance involving these genes could affect the ultrastructure of the stereocilia links in familial MD.