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1. RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.

Author

Morel, Godelieve, Ernest, Sylvain, Serey‐Gaut, Margaux, Jonard, Laurence, Balogoun, Abeke Ralyath, Parodi, Marine, Loundon, Natalie, Achard, Sophie, and Marlin, Sandrine

Subjects
ANIMAL models in research, LABORATORY mice, ANIMAL disease models, GENES, PATHOLOGY
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. [ABSTRACT FROM AUTHOR]

Published
2023
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