The Laryngoscope
June 30, 2026 · via Europe PMC
ATP6V1B1-A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis.
Prasad SG, Clement E, Lequin MH, D'Arco F.
AI summary — for doctors, generated from the abstract only
ATP6V1B1 is proposed as a gene linking the Pendred-type inner ear phenotype with distal renal tubular acidosis.
What was studied
A genetic association study aiming to understand the link between sensorineural hearing loss with distal renal tubular acidosis and to add ATP6V1B1 to genes causing the Pendred ear phenotype.
Key findings
- The abstract states the aim only and gives no sample size or results.
- It points to ATP6V1B1 as a candidate contributor to the enlarged vestibular aqueduct-type imaging phenotype.
Clinical relevance
Children with enlarged vestibular aqueduct and hearing loss may warrant consideration of metabolic evaluation for renal tubular acidosis.
Who should care
Limitations
The abstract contains no methods or results, so the strength of the evidence cannot be judged.
Keep ATP6V1B1-related distal RTA in mind when Pendred-type imaging is found and check acid-base status if suggestive.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
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".
DOI
10.1002/lary.70716
PMID
42376910
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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