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

Clin Genet. 2023 Oct 21. doi: 10.1111/cge.14436. Online ahead of print.ABSTRACTCochleovestibular 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.PMID:37864412 | DOI:10.1111/cge.14436

Source: Clinical Genetics - October 21, 2023 Category: Genetics & Stem Cells Authors: Godelieve Morel Sylvain Ernest Margaux Serey-Gaut Laurence Jonard Abeke Ralyath Balogoun Marine Parodi Natalie Loundon Sophie Achard Sandrine Marlin Source Type: research