This study aims to provide new insights in understanding the genetic association between sensorineural hearing loss with distal renal tubular acidosis (RTA) and to add ATP6V1B1 to the list of known genes causing "Pendred ear phenotype".
Audiologists and otolaryngologists encountering patients with the Pendred imaging phenotype (enlarged vestibular aqueduct/cochlear malformation pattern) should consider ATP6V1B1 mutation testing and prompt referral for renal evaluation, as co-existing distal renal tubular acidosis may be present.
Expanding the genetic landscape of syndromic sensorineural hearing loss improves diagnostic accuracy and may prompt life-changing metabolic workups in affected patients.
- 01ATP6V1B1 mutations are identified as a novel genetic link between Pendred imaging phenotype and distal renal tubular acidosis.
- 02Pendred imaging phenotype includes enlarged vestibular aqueduct and cochlear malformation on MRI/CT.
- 03Distal renal tubular acidosis can be life-threatening if undiagnosed, raising stakes for genetic screening.
- 04Published in Laryngoscope (PMID 42376910; DOI 10.1002/lary.70716).
- 05Finding supports multi-system genetic evaluation in patients with unexplained sensorineural hearing loss and imaging anomalies.
ATP6V1B1 mutations are associated with both the Pendred imaging phenotype (sensorineural hearing loss with inner ear malformation) and distal renal tubular acidosis.
studysupported- PMID
- 42376910
- DOI
- 10.1002/lary.70716.
- Journal
- Laryngoscope
- Publication type
- research_article
- Evidence level
- 4
- Population
- Patients with the Pendred imaging phenotype (sensorineural hearing loss with inner ear malformation) evaluated for ATP6V1B1 mutations
- Intervention
- Genetic identification and characterisation of ATP6V1B1 mutations
Primary outcomes
Association between ATP6V1B1 mutations and Pendred imaging phenotype; Co-occurrence of distal renal tubular acidosis in mutation carriers