Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2006 Jul;43(7):576-81.
doi: 10.1136/jmg.2005.038612. Epub 2005 Dec 21.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

R Varga  1 , M R Avenarius, P M Kelley, B J Keats, C I Berlin, L J Hood, T G Morlet, S M Brashears, A Starr, E S Cohn, R J H Smith, W J Kimberling
Affiliations

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

R Varga et al. J Med Genet. 2006 Jul.

Abstract

Introduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene.

Methods: In total, 65 recessive non-syndromic hearing loss families were screened by genotyping for association with the DFNB9/OTOF gene. Families with genotypes consistent with linkage or uninformative for linkage to this gene region were further screened for mutations in the 48 known coding exons of otoferlin.

Results: Eight OTOF pathological variants were discovered in six families. Of these, Q829X was found in two families. We also noted 23 other coding variant, believed to have no pathology. A previously published missense allele I515T was found in the heterozygous state in an individual who was observed to be temperature sensitive for the auditory neuropathy phenotype.

Conclusions: Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy.

PubMed Disclaimer

Conflict of interest statement

Competing interests: there are no competing interests

References

    1. Van L L, Cryns K, Smith R J, Van C G. Nonsyndromic hearing loss. Ear Hear 200324275–288. - PubMed
    1. Varga R, Kelley P M, Keats B J, Starr A, Leal S M, Cohn E, Kimberling W J. Non‐syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet 20034045–50. - PMC - PubMed
    1. Rodriguez‐Ballesteros M, del Castillo F J, Martin Y, Moreno‐Pelayo M A, Morera C, Prieto F, Marco J, Morant A, Gallo‐Teran J, Morales‐Angulo C, Navas C, Trinidad G, Tapia M C, Moreno F, del C, I Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 200322451–456. - PubMed
    1. Tekin M, Akcayoz D, Incesulu A. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. Am J Med Genet A 20051386–10. - PubMed
    1. Madden C, Hilbert L, Rutter M, Greinwald J, Choo D. Pediatric cochlear implantation in auditory neuropathy. Otol Neurotol 200223163–168. - PubMed

Publication types