Table 1

Clinical characteristics of three patients in two families with compound heterozygousCDH23mutations
Sample Relationship Threshold* (Rt) (dB) Threshold* (Lt) (dB) Severity Residual hearing in the lower frequencies** (dB) Hearing in the higher frequencies*** (dB) Age Age of awareness Hearing aid/cochlear implant Vertigo
SR-106 NR at 90 dB nHL NR at 90 dB nHL Profound N.D. N.D. 3 3 None N.D.
SR-209 NR at 90 dB nHL 103 Profound 90 (L) 110 (L) 1.9 1.9 CI
SR-209B Sibling of SR-209 NR at 90 dB nHL 115 Profound 107.3 (L) NR (L) 1.3 1.3 CI

N.D., Not Determined; CI, cochlear implant.

*Average of 500, 1000, 2000, and 4000 Hz.

**Average of 125, 250, and 500 Hz.

***Average of 2000, 4000, and 8000 Hz.

Woo et al.

Woo et al. BMC Medical Genetics 2014 15:46   doi:10.1186/1471-2350-15-46

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