RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Godelieve MorelSylvain ErnestMargaux Serey-GautLaurence JonardAbeke Ralyath BalogounMarine ParodiNatalie LoundonSophie AchardSandrine MarlinPublished in: Clinical genetics (2023)
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.
Keyphrases
- intellectual disability
- hearing loss
- mouse model
- end stage renal disease
- ejection fraction
- endothelial cells
- newly diagnosed
- chronic kidney disease
- magnetic resonance
- oxidative stress
- single cell
- prognostic factors
- genome wide
- peritoneal dialysis
- autism spectrum disorder
- computed tomography
- mesenchymal stem cells
- gene expression
- bone marrow
- case report
- induced pluripotent stem cells
- patient reported
- genome wide identification