期刊
CLINICAL GENETICS
卷 -, 期 -, 页码 -出版社
WILEY
DOI: 10.1111/cge.14436
关键词
animal model; DFNB104; RIPOR2; vestibular dysfunction
Cochleovestibular dysfunctions are rare conditions that are often misrecognized. A study on Tunisian siblings revealed a homozygous pathogenic variation in the RIPOR2 gene, leading to congenital bilateral profound hearing and vestibular dysfunctions. However, contrary to our findings, deaf mouse and zebrafish models with Ripor2 knockout had normal vestibular function.
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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