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

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

doi:10.1111/cge.14436

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

Clin Genet. 2023 Dec;104(6):669-673. doi: 10.1111/cge.14436. Epub 2023 Oct 21.

Authors

Godelieve Morel^{1

2}, Sylvain Ernest³, Margaux Serey-Gaut^{1

4}, Laurence Jonard^{1

4}, Abeke Ralyath Balogoun^{1

4}, Marine Parodi⁵, Natalie Loundon^{1

4

5}, Sophie Achard^{1

5}, Sandrine Marlin^{1

3

4}

Affiliations

¹ Centre de Référence «Surdités Génétiques», Fédération de Génétique; Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
² Service de Génétique Médicale, CHU Felix Guyon, France.
³ Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France.
⁴ Centre de Recherche en Audiologie (CREA), Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
⁵ Service d'ORL Pédiatrique et de Chirurgie Cervico-Faciale, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.

PMID: 37864412
DOI: 10.1111/cge.14436

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.

Keywords: DFNB104; RIPOR2; animal model; vestibular dysfunction.

MeSH terms

Animals
Bilateral Vestibulopathy*
Disease Models, Animal
Hearing Loss, Sensorineural* / genetics
Humans
Mice
Zebrafish