Journal
JOURNAL OF MEDICAL GENETICS
Volume 43, Issue 7, Pages 576-581Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2005.038612
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Funding
- NIDCD NIH HHS [5P60DC00982, 2P01DC0813-07, R01-DC02618, R01 DC000813, R01-DC02842] Funding Source: Medline
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Introduction: The majority of hearing loss in children can be accounted for by genetic causes. Nonsyndromic 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.
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