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

R Varga; 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

doi:10.1136/jmg.2005.038612

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

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

R Varga, 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, …

Journal of medical genetics, Vol.43(7), pp.576-581

12/21/2005

DOI: 10.1136/jmg.2005.038612

PMCID: PMC2593030

PMID: 16371502

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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.

Original Article

otorhinolaryngologic diseases

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Title: Subtitle: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
Creators: R Varga
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
Resource Type: Journal article
Publication Details: Journal of medical genetics, Vol.43(7), pp.576-581
DOI: 10.1136/jmg.2005.038612
PMID: 16371502
PMCID: PMC2593030
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Publisher: BMJ Group
Language: English
Date published: 12/21/2005
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006318202771

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