Table 1 General information and phenotypic characteristic of sporadic deafness patients and normal hearing controls

From: Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

 

Sporadic patients

Controls

Characteristic

number

percentage of the total

number

Sex

  Male

232

53.58%

345

  Female

201

47.42%

271

Age when DNA samples collected

  Average

10.55

 

31.18

  Age ≤ 2

73

16.86%

 

  Age 3–17

259

59.82%

 

  Age ≥ 18

101

23.32%

616

Ethnicity

  Han

415

95.84%

616

  Hui

3

0.92%

 

  Man

9

2.08%

 

  Dai

1

0.23%

 

  Mongolia

3

0.69%

 

  Zhuang

1

0.23%

 

  Xibo

1

0.23%

 

Family history

  No Deafness family history

407

94.00%

 

  Report deafness family history

14

3.23%

 

  Ambiguous

12

2.77%

 

  Report use of ototoxic drugs

7

1.62%

 

Onset of hearing loss

  Congenital

317

73.21%

 

  Childhood

101

23.33%

 

  Adult

3

0.69%

 

  Ambiguous

12

2.77%

 

Severity

  Normal

  

616

  Mild-moderate

13

3.00%

 

  Severe-profound

408

94.23%

 

  Without audiogram

12

2.77%

 

Laterality

  Bilateral

432

99.77%

 

  Unilateral

1

0.23%

 

  Syndromic hearing loss

3

0.69%

 

  Nonsyndromic hearing loss

430

99.31%

 

Temporal bone computed tomography

  Bilateral enlarged vestibular aqueduct

89

20.55%

 

  Other inner ear malformation

11

2.54%

 

  Normal

333

76.91%

 

Physical examination

  Microtia

2

0.46%

 

  Goiter

1

0.23%

 

  Heterochromia iridis

2

0.46%

 

  Cutaneous pigmentation

2

0.46%

 

  Ocular hypertelorism

1

0.23%

 

  Cochlear implantation

121

27.94%