The Journal of International
Advanced Otology
Case Report

Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation

1.

University of Liverpool, Faculty of Medical and Health Sciences, School of Medicine, UK

2.

Department of Audiology and Audiovestibular Medicine, Alder Hey Children’s Hospital NHS Foundation Trust, Liverpool, UK

3.

Department of Radiology, Alder Hey Children’s Hospital NHS Foundation Trust, Liverpool, UK

J Int Adv Otol 2024; 20: 85-88
DOI: 10.5152/iao.2024.231284
Read: 80 Downloads: 38 Published: 01 February 2024

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.

Cite this article as: Shahid M, Ahmed M, Avula S, Dasgupta S. Cochleovestibular phenotype in a rare genetic MED13L mutation. J Int Adv Otol. 2024;20(1):85-88.

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