Table 2 SNVs Diagnoses Rate and Inheritance Patterns in Sporadic Patients with Genetic Hearing Loss

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

Gene

Total diagnoses

Autosomal dominant

Autosomal recessive

Mitochondrial

X-Linked

 
 

Diagnoses

%

Diagnoses

Diagnoses

Diagnoses

Diagnoses

GJB2

100

23.09%

 

100

  

SLC26A4

84

19.39%

 

84

  

12SrRNA

5

1.15%

  

5

 

MYO15A

4

0.92%

 

4

  

POU3F4

3

0.69%

   

3

USH2A

3

0.69%

 

3

  

MYO1F

3

0.69%

 

3

  

MYO7A

3

0.69%

 

3

  

TMC1

3

0.69%

 

3

  

TRIOBP

2

0.69%

 

2

  

CDH23

2

0.46%

 

2

  

KCNQ4

2

0.46%

2

   

ADGRV1

1

0.23%

 

1

  

PAX3

1

0.23%

1

   

MITF

1

0.23%

1

   

CLDN14

1

0.23%

 

1

  

OTOA

1

0.23%

 

1

  

OTOF

1

0.23%

 

1

  

PDZD7

1

0.23%

 

1

  

TECTA

1

0.23%

 

1

  

TRPN

1

0.23%

 

1

  

TMPRSS3

1

0.23%

 

1

  

KCNQ1

1

0.23%

 

1

  

MYO6

1

0.23%

1

   

Total

226

52.19%

5

213

5

3