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. 2009 Feb;149A(2):280-5.
doi: 10.1002/ajmg.a.32618.

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

Michael S Hildebrand  1 , Dylan Tack, Adam Deluca, In Ae Hur, Jana M Van Rybroek, Sarah J McMordie, Ann Muilenburg, David P Hoskinson, Guy Van Camp, Myles L Pensak, Ian S Storper, Patrick L M Huygen, Thomas L Casavant, Richard J H Smith
Affiliations

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

Michael S Hildebrand et al. Am J Med Genet A. 2009 Feb.
No abstract available

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Figures

Figure 1
Figure 1
Pedigree of the five-generation American family with nonsyndromic autosomal dominant HFSNHL, vestibular dysfunction and SSCD. Genotypes for nuceotide c.151 in the COCH gene are shown for those individuals included in the genetic analysis. Individuals IV:5 and IV:6 were reported to have hearing loss, however they are likely to represent phenocopies. Diagonal line deceased.
Figure 2
Figure 2
The causative mutation in the COCH gene in the American family. The mutation is a heterozygous C-to-T base change in exon 3 (c.151C→T) that results in substitution of a proline residue for a serine residue at position 51 (p.P51S).
Figure 3
Figure 3
Audiograms of representative affected family members at various ages. Affected individuals initially exhibit high frequency (> 2000 Hz) mild-to-moderate SNHL (HFSNHL) that progresses to become severe-to-profound before flattening out later in life.
Figure 4
Figure 4
Audiometry and temporal bone CT of individual V:1. A Audiogram recorded at 31 years of age showing slightly elevated hearing thresholds at high frequencies. B Coronial high-resolution CT scan of the temporal bones showing bilateral superior semicircular canal dehiscence (SSCD).
Figure 4
Figure 4
Audiometry and temporal bone CT of individual V:1. A Audiogram recorded at 31 years of age showing slightly elevated hearing thresholds at high frequencies. B Coronial high-resolution CT scan of the temporal bones showing bilateral superior semicircular canal dehiscence (SSCD).
See this image and copyright information in PMC

References

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