ArticleThe journal of international advanced otology2024
Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation.
Article in The journal of international advanced otology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Article
- Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study.Journal of neurology · 2025Article
- Case Report: Novel mutations in two patients withFrontiers in genetics · 2025Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
The gene MED13 participates in transcription. The MED13L gene is a paralog of MED13 that is involved in developmental gene expression. Mutations in the gene have been shown to result in a heterogenous phenotype affecting several physiological systems. Hearing loss has been reported very rarely, and vestibular weakness has never been reported in the condition. In this report, we present a mutation of MED13L in c.1162A > T (p.Arg388Ter), where we detail and describe a cochleovestibular phenotype with objective vestibulometry for the first time. The child showed bilateral sloping sensorineural hearing loss, a bilateral vestibular weakness, and an inner ear vestibular structural abnormality on imaging. Early intervention with hearing aids and vestibular rehabilitation led to a favorable outcome in terms of speech, communication, and balance. We emphasize the importance of comprehensive audiovestibular assessment in children diagnosed with MED13L mutations for effective management of these children.
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