Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.

@article{Mirghomizadeh2002SubstitutionsIT,
  title={Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.},
  author={Farhad Mirghomizadeh and Markus Pfister and Fazil Apaydin and Christine Petit and Susan Kupka and Carsten Matthias Pusch and Hans Peter Zenner and Nicolaus Blin},
  journal={Neurobiology of disease},
  year={2002},
  volume={10 2},
  pages={157-64}
}
DFNB, the nonsyndromic hearing loss with an autosomal recessive mode of inheritance constitutes the majority of severe to profound prelingual forms of hearing impairment, usually leading to inability of speech acquisition. We analyzed a consanguineous family with autosomal recessive deafness which has been shown to segregate within chromosomal region 2p23.1 (DFNB9; MIM 601071). By SSCP analysis and DNA sequencing of the 48 exons of the DFNB9 gene, coding for otoferlin, previously reported… CONTINUE READING
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