AI Article Synopsis
- Cochleovestibular dysfunctions are uncommon and often misdiagnosed, with a specific genetic mutation linked to these conditions.
- A pathogenic variant in the RIPOR2 gene was found in Tunisian siblings who have severe hearing and balance issues.
- Unlike the patients, animal models with Ripor2 mutations (like mice and zebrafish) maintain normal vestibular function, highlighting differences in how this mutation affects different species.
Article 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.
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| http://dx.doi.org/10.1111/cge.14436 | DOI Listing |
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