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

@article{Varga2006OTOFMR,
  title={OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.},
  author={Renee Varga and M. Avenarius and Phil M Kelley and Bronya J. B. Keats and Charles I. Berlin and Linda J. Hood and Thierry G. Morlet and Shanda M. Brashears and Alexander Starr and Edward S. Cohn and Richard J. H. Smith and William J. Kimberling},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 7},
  pages={576-81}
}
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… CONTINUE READING

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