PUBLICATION
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models
- Authors
- Morel, G., Ernest, S., Serey-Gaut, M., Jonard, L., Balogoun, A.R., Parodi, M., Loundon, N., Achard, S., Marlin, S.
- ID
- ZDB-PUB-231022-50
- Date
- 2023
- Source
- Clinical genetics 104(6): 669-673 (Journal)
- Registered Authors
- Ernest, Sylvain
- Keywords
- DFNB104, RIPOR2, animal model, vestibular dysfunction
- MeSH Terms
-
- Animals
- Bilateral Vestibulopathy*
- Disease Models, Animal
- Hearing Loss, Sensorineural*/genetics
- Humans
- Mice
- Zebrafish
- PubMed
- 37864412 Full text @ Clin. Genet.
Citation
Morel, G., Ernest, S., Serey-Gaut, M., Jonard, L., Balogoun, A.R., Parodi, M., Loundon, N., Achard, S., Marlin, S. (2023) RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models. Clinical genetics. 104(6):669-673.
Abstract
Cochleovestibular dysfunctions are rare conditions misrecognized. A homozygous pathogenic variation c.1561C > T (p.Arg521*) in RIPOR2 (RHO family interacting cell polarization regulator 2) has been identified by WES in Tunisian siblings suffering from congenital bilateral profound hearing and vestibular dysfunctions. In contrast to the vestibular areflexia observed in our patients, deaf Ripor2 KO mouse model and our zebrafish model have normal vestibular function.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping