Defective α-tectorin may involve tectorial membrane in familial Meniere disease
Pablo Roman-Naranjo 1 2 3 4 , Alberto M Parra-Perez 1 3 4 , Alba Escalera-Balsera 1 2 3 , Andres Soto-Varela 5 6 , Alvaro Gallego-Martinez 1 2 3 , Ismael Aran 7 , Nicolas Perez-Fernandez 8 , David Bächinger 9 , Andreas H Eckhard 9 , Rocio Gonzalez-Aguado 10 , Lidia Frejo 1 2 3 , Jose A Lopez-Escamez 1 2 3 4
Although there have been considerable advances in recent years, the contribution of genetic factors to Meniere's disease (MD) is not yet fully understood. MD (OMIM 156000) is an inner ear disorder defined by episodes of vertigo associated with sensorineural hearing loss (SNHL) affecting low to medium frequencies, tinnitus, and aural fullness. Familial aggregation in MD has been described in 9–10% of European descendant population, showing an autosomal dominant inheritance pattern in most families.1 Despite familial MD displays extensive genetic heterogeneity,2 we recently observed multiple families carrying rare variants in genes encoding proteins involved in the structure of the hair cells stereocilia and their attachment to the tectorial membrane (TM): an enrichment of rare missense variants in the OTOG gene was found in 15 unrelated MD families3 and other 9 families showed rare heterozygous variants in the MYO7A gene.4 In this study, we have performed bioinformatic analyses in exome sequencing data obtained from patients of 77 families with MD to better understand the genetic underpinnings of the disease.
CITA DEL ARTÍCULO Clin Transl Med. 2022 Jun;12(6):e829. doi: 10.1002/ctm2.829