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Table 1 Phenotype and genotype of individual family members

From: A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

Family member

Age (year)

Nucleotide change

PTA-Right (dB HL)

PTA-Left (dB HL)

Age of onset (years)

Noise exposure

Ototoxic drugs

Head trauma

IV:1

67

c.1183 + 1 G > C

85

72.5

25

No

No

No

IV:2

66

Wild type

16.25

17.5

/

No

No

No

V:2

40

c.1183 + 1 G > C

76.25

70

18

No

No

No

V:4

35

Wild type

6.25

12.5

/

No

No

No

V:6

31

Wild type

6.25

8.75

/

No

No

No

V:9

30

c.1183 + 1 G > C

62.5

63.75

20

No

No

No

V:10

29

Wild type

16.25

16.25

/

No

No

No

V:14

30

Wild type

17.5

20

/

No

No

No

VI:8

3

Wild type

7.5

6.25

/

No

No

No