Table 1 Clinical presentations and diagnoses

From: An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis

 

Total (n)

Mutation detection (n)

Detection rate (%)

Diagnosis (n)

Diagnosis rate (%)

All cases

52

30

58

21

40

Gender

 Male

20

15

75

13

65

 Female

32

15

47

8

25

Genetic testing

 First (Invader assay+direct sequencing)

52

11

21

9

17

 Second (TaqMan genotyping assay)

43

7

16

4

9

 Third (Targeted exon sequencing using MPS)

39

16

41

8

21

Inheritance mode

 Autosomal dominant

12

8

67

6

50

 Autosomal recessive

5

3

60

3

60

 Sporadic

35

19

54

12

34

Age of onset

 Congenital

32

20

63

14

43

 Childhood (<17)

16

7

44

5

31

 Adult (>18)

4

3

75

2

50

Type of hearing loss

 Mild–moderate

21

9

43

6

29

 Severe–profound

31

21

68

15

48

 Symmetric

44

28

64

20

45

 Asymmetric

8

2

25

1

13

  1. Abbreviation: MPS, massively parallel DNA sequencing.
  2. The diagnostic rates of AD and AR cases, severe-to-profound SNHL and cases with symmetric SNHL were higher than those for sporadic cases, mild-to-moderate SNHL and cases with asymmetric SNHL, respectively.
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