Skip to main content

Table 1 Clinical characteristics of three patients in two families with compound heterozygous CDH23 mutations

From: Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

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

ã…¡

SR-209B

Sibling of SR-209

NR at 90 dB nHL

115

Profound

107.3 (L)

NR (L)

1.3

1.3

CI

ã…¡

  1. N.D., Not Determined; CI, cochlear implant.
  2. *Average of 500, 1000, 2000, and 4000 Hz.
  3. **Average of 125, 250, and 500 Hz.
  4. ***Average of 2000, 4000, and 8000 Hz.