Back to Search Start Over

Defective α‐tectorin may involve tectorial membrane in familial Meniere disease.

Authors :
Roman‐Naranjo, Pablo
Parra‐Perez, Alberto M.
Escalera‐Balsera, Alba
Soto‐Varela, Andres
Gallego‐Martinez, Alvaro
Aran, Ismael
Perez‐Fernandez, Nicolas
Bächinger, David
Eckhard, Andreas H.
Gonzalez‐Aguado, Rocio
Frejo, Lidia
Lopez‐Escamez, Jose A.
Source :
Clinical & Translational Medicine; Jun2022, Vol. 12 Issue 6, p1-5, 5p
Publication Year :
2022

Abstract

In this study, the presence of rare missense variants and frame shift deletions in the I TECTA i gene in six unrelated families with MD suggests a role of this gene in the pathophysiology of the disease. Three rare missense variants (colored in blue) and two short deletions (colored in red) were found in four multicase MD families (arrow shaped) and two additional families with one MD patient and relatives with partial syndromes (diamond shaped). Dear Editor Although there have been considerable advances in recent years, the contribution of genetic factors to Meniere's disease (MD) is not yet fully understood. [Extracted from the article]

Details

Language :
English
ISSN :
20011326
Volume :
12
Issue :
6
Database :
Complementary Index
Journal :
Clinical & Translational Medicine
Publication Type :
Academic Journal
Accession number :
157710153
Full Text :
https://doi.org/10.1002/ctm2.829