RT Journal Article
T1 Defective α-tectorin may involve tectorial membrane in familial Meniere disease.
A1 Roman-Naranjo, Pablo
A1 Parra-Perez, Alberto M
A1 Escalera-Balsera, Alba
A1 Soto-Varela, Andres
A1 Gallego-Martinez, Alvaro
A1 Aran, Ismael
A1 Perez-Fernandez, Nicolas
A1 Bächinger, David
A1 Eckhard, Andreas H
A1 Gonzalez-Aguado, Rocio
A1 Frejo, Lidia
A1 Lopez-Escamez, Jose A
K1 Meniere Disease
K1 Tectorial Membrane
K1 Extracellular Matrix Proteins
K1 Humans
AB 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.
PB John Wiley & Sons Ltd.
YR 2022
FD 2022-04-05
LK http://hdl.handle.net/10668/21884
UL http://hdl.handle.net/10668/21884
LA en
NO Roman-Naranjo P, Parra-Perez AM, Escalera-Balsera A, Soto-Varela A, Gallego-Martinez A, Aran I, et al. Defective α-tectorin may involve tectorial membrane in familial Meniere disease. Clin Transl Med. 2022 Jun;12(6):e829.
NO The authors appreciate the participation of all patients with MD and their families in this study. This project was partially funded by H2020-SC1-2019-848261 (UNITI), CECEU PY20-00303 (EPIMEN), European Regional Funds B-CTS-68-UGR20 (M3N-OMIC), and the Schmieder-Bohrisch Foundation (Geneva, Switzerland). AMPP is supported by a predoctoral grant from the Regional Ministry of Economic Transformation, Industry, Knowledge and Universities of Junta de Andalucía (Grant number PREDOC2021/00343). DB is supported by a national MD-PhD scholarship from the Swiss National Science Foundation (SNSF). AHE is supported by a career development grant (“Filling the Gap”) from the University of Zurich, Switzerland. Funding for open access charge: Universidad de Granada/CBUA.
DS RISalud
RD Apr 9, 2025