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

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 ves...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2023-12, Vol.104 (6), p.669-673
Main Authors: Morel, Godelieve, Ernest, Sylvain, Serey‐Gaut, Margaux, Jonard, Laurence, Balogoun, Abeke Ralyath, Parodi, Marine, Loundon, Natalie, Achard, Sophie, Marlin, Sandrine
Format: Article
Language:English
Subjects:
Animal models
Vestibular system
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14436