Article
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
Neurobiology of disease - 1 Jul 2002
Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch C M, Zenner H P, Blin N
Abstract excerpt
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...
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