Otology and Neurotology

Vestibular Pathologies in Patients with STRC Gene Deletions

Achard S, Campion M, Parodi M, et al. Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions. Otol Neurotol. 2023;44(4):e241-e245. [Article link]

Breaking the silence: Unveiling the link between DFNB16 hearing loss and recurrent BPPV

The DFNB16 locus (OMIM 603720) causes bilateral, congenital, isolated sensorineural hearing loss (HL). Deletions in the STRC gene (OMIM 606440), a gene that encodes the stereocilin protein, are responsible for hearing loss in the locus. Vestibular function in DFNB16 patients has formerly been considered normal but case reports have shown otherwise. This is the first study to investigate vestibular pathologies, particularly BPPV, in patients with biallelic deletions of the STRC gene. A monocentric descriptive observational epidemiological study was performed on patients with known HL due to biallelic STRC gene deletion identified between 2015-2021. 64 patients were included with a median age of 15 years. Results showed that 45% (n=29) of patients had previously experienced vestibular vertigo. Of the 29 patients who experienced vertigo, 86% (n=25) met the criteria for BPPV with 13 of them already having a diagnosis of BPPV. This is the first study of its kind to highlight the prevalence of BPPV in a predominantly pediatric population with biallelic deletion of STRC. 

Donald Keating’s Takeaway: This study broadens the understanding of the DFNB16 phenotype by associating it with stable mild to moderate hearing loss and recurrent BPPV. By providing novel insights into the DFNB16 phenotype, this study paves the way for future research aimed at advancing our understanding of these conditions.