Hearing loss secondary to variants in the OTOF gene
-
Published:2024-11
Issue:
Volume:186
Page:112082
-
ISSN:0165-5876
-
Container-title:International Journal of Pediatric Otorhinolaryngology
-
language:en
-
Short-container-title:International Journal of Pediatric Otorhinolaryngology
Author:
Morales-Angulo CarmeloORCID,
Gallo-Terán Jaime,
González-Aguado Rocío,
Onecha Esther,
del Castillo Ignacio
Reference39 articles.
1. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness;Yasunaga;Nat. Genet.,1999
2. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse;Roux;Cell,2006
3. Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene;Gallo-Terán;Acta Otorrinolaringol. Esp.,2004
4. The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review;Ford;Hum. Genet.,2023
5. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene;Varga;J. Med. Genet.,2003