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Table 1 Phenotypes and genotypes of the family members in this study

From: A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

Family members

Age of onset (years)

Nucleotide change

At the beginning of this study (2014)

Follow-up (2016)

Tinnitus (No or Yes)

Exposure to noise (No or Yes)

Ototoxic drugs expose (No or Yes)

Vertigo (No or Yes)

PTA

DPOAE

PTA

DPOAE

Right

Left

Right

Left

Right

Left

Right

Left

IV:8

25

c.887G > A

90

77.5

Absent at all frequencies

Absent at all frequencies

95

90

Absent at all frequencies

Absent at all frequencies

Yes

No

No

No

V:1

15

c.887G > A

116.25

97.5

Absent at all frequencies

Absent at all frequencies

110

93.75

Absent at all frequencies

Absent at all frequencies

Yes

No

No

No

V:2

-

wildtype

15

12.5

Not examined

Not examined

20

15

Not examined

Not examined

No

No

No

No

V:3

-

wildtype

13.75

28.75

Not examined

Not examined

15

33.75

Normal

Normal at 1 and 2 KHz and absent at other frequencies

No

Yes

No

No

V:5

30

c.887G > A

58.75

55

Absent at all frequencies

Absent at all frequencies

50

48.75

Absent at all frequencies

Absent at all frequencies

Yes

No

No

No

V:7

-

wildtype

20

17.5

Not examined

Not examined

15

18.75

Normal

Normal

No

No

No

No

VI:1

18

c.887G > A

77.5

61.25

Absent at all frequencies

Absent at all frequencies

88.75

103.8

Absent at all frequencies

Absent at all frequencies

Yes

No

No

No

VI:2

21

c.887G > A

40

42.5

Not examined

Not examined

42.5

45

Not examined

Not examined

Yes

No

No

No