Research ArticleOriginal Article
Open Access

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy

Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi and Guy van Camp
Saudi Medical Journal October 2016, 37 (10) 1068-1075; DOI: https://doi.org/10.15537/smj.2016.10.14967

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Figures

  • Figure 1
    Figure 1

    Co-segregation of microsatellite alleles for DFNB9 (OTOF) in the Omani family affected with DFNB9. Microsatellites DNA markers D2S2144, D2S2223, D2S174, D2S365, and D2S366 (the area of OTOF gene) were segregated with the family. Individuals 1-2: heterozygous parents, 3-7: homozygous affected, and 8-10: normal family members.

  • Figure 2
    Figure 2

    Electropherogram showing C.1469 substitution mutation C<G in the affected (homo-affected), CC (homo-normal) and CG (heterozygous parents).

  • Figure 3
    Figure 3

    A diagram showing the A) 6 C2 domains of otoferlin (CA-CF) and B) the amino acids positions of the domains in the protein. 3) Wild type C2C domain contains PI3K-C2 while D) the mutated type has an extra isoform CIQ.

  • Figure 4
    Figure 4

    Otoferlin C2C wild type secondary structure. The arrow shows the presence of coils-beta turns and alpha helix. Otoferlin C2C mutated type secondary structure. The arrow shows a reduction of coils-beta turns and an increase in number of alpha helix. lllla-helix, llll Extended strand (ß-strand), llll Other states (Coils – Beta turns)

  • Figure 5
    Figure 5

    Ribbon and space-filling models of wild-type and mutated C2C domains of otoferlin. A) The wild type is more cohesive than B) the mutated form.

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