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RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
- Source :
-
Clinical Genetics . Dec2023, Vol. 104 Issue 6, p669-673. 5p. - Publication Year :
- 2023
-
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]
- Subjects :
- *ANIMAL models in research
*LABORATORY mice
*ANIMAL disease models
*GENES
*PATHOLOGY
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 104
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 173469928
- Full Text :
- https://doi.org/10.1111/cge.14436