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Table 3 Clinical manifestation of JSNY-045 family members

From: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Members

Gender

Age at enrollment (years)

Clinical testing

PTAa(dBHL)

Vestibular function

Night blindness

Visual fields

Photophobia

ERGb

II3

Male

28

78.75

Normal

No

Normal

No

Normal

II2

Female

30

88.75

Normal

No

Normal

No

Normal

I1

Male

55

18.75

Normal

No

Normal

No

Normal

I2

Female

53

18.75

Normal

No

Normal

No

Normal

  1. aPTA: pure tone average of 0.5, 1, 2, and 4 kHz for the better ear; bERG: electroretinogram.