Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions

Author:

Achard Sophie,Campion Margaux1,Parodi Marine,MacAskill Melissa2,Hochet Baptiste3,Simon François,Rouillon Isabelle,Jonard Laurence,Serey-Gaut Margaux,Denoyelle Françoise,Loundon Natalie,Marlin Sandrine

Affiliation:

1. Department of Paediatric Otolaryngology, 149 rue de Sèvres, Hôpital Necker-Enfants Malades, AP-HP

2. Centre de Recherche en Audiologie pédiatrique, 149 rue de Sèvres, Hôpital Necker, F-75015 Paris

3. Department of Otolaryngology, 40 Rue Worth, 92150 Suresnes, Hôpital Foch, Suresnes F-92150

Abstract

Objective Deletions of STRC gene (DFNB16) account for 12% of isolated congenital mild to moderate hearing loss (HL). In mice, the stereocilin protein, encoded by STRC, is present in the vestibular kinocilium embedded in the otoconial membrane of the utricular macula. Despite this, effects on vestibular function have not been widely investigated. The aim of this study was to investigate the prevalence of benign paroxysmal positional vertigo (BPPV) in a cohort of DFNB16 patients. Study Design Observational descriptive epidemiological study. Setting Single-center study, in a tertiary referral center. Patients Older than 5 years, with a genetic diagnosis of HL related to biallelic STRC gene deletions, diagnosed between 2015 and 2021 Intervention Patients or their parents were interviewed to determine whether they had experienced vertigo or episodes of BPPV. Main Outcome Measure Criteria were at least five acute episodes of rotatory vertigo, each lasting less than 1 minute, episodes triggered by changes in specific head position, and an absence of neurological symptoms. Results Sixty-four patients having mild (33%) to moderate (66%) HL were included. Median age was 15 years (range, 6–48 yr). Prevalence of BPPV was 39% (25 of 64). Median age of first onset was 13 years (range, 3–18 yr). Conclusions This study showed recurrent BPPV and early age of onset in patients with biallelic STRC gene deletions. BPPV may be associated with the HL phenotype in patients with STRC gene deletions. It is important to inform patients and families of this potential risk such that appropriate management can be proposed.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Sensory Systems,Otorhinolaryngology

Reference22 articles.

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