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Table 3 Overview of KCNQ4 mutations described in DFNA2

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

Mutation

Protein change

Exon

Origin

Age of onset

Sub-domain

Reference

c.211delC

p.Q71fs

1

Japan

8–50

N-term cyto

[17, 18]

c.211del13

p.Q71fs

1

Belgian

<10

N-term cyto

[15]

c.229_230insGC

p.H77fs

1

Japan

27

N-term cyto

[18]

c.546C > G

p.F182L

4

Japan

--

S3 trans

[18, 19]

c.664_681del18

p.G215_220del6

4

Korea

earliest 4

S4–S5 linker

[14]

c.689 T > A

p.V230E

4

Japan

3–40

S4–S5 linker

[18]

c.725G > A

p.W241X

5

America

--

S5 trans

[16]

c.778G > A

p.E260K

5

America

--

S5 trans

[16]

c.785A > T

p.D262V

5

America

--

S5 trans

[16]

c.806_808delCCT

p.S269del

5

Canada

<10

S5–S6 linker

[11]

c.821 T > A

p.L274H

5

Neth

--

PR(P)

[23]

c.823 T > C

p.W275R

5

China

2–30

PR(P)

[24]

c.827G > C

p.W276S

5

Japan,Dutch

<10

PR(P)

[12, 15, 21, 22]

c.842 T > C

p.L281S

6

America

--

PR(P)

[20]

c.853G > T

p.G285C

6

America

<10

PR(P)

[15]

c.853G > A

p.G285S

6

French,China

6–30

PR(P)

[4, 24]

c.859G > C

p.G287R

6

America

1–21

PR(P)

[13]

c.871C > T

p.P291S

6

Japan

20

PR(P)

[18]

c.872C > T

p.P291L

6

Japan

17

PR(P)

[18]

c.886G > A

p.296S

6

Spanish

9–50

PR

[7]

c.887G > A

p.G296D

6

China

15–25

PR

This study

c.891G > T

p.R297S

6

Japan

5,39

S6 trans

[18]

c.961G > A

p.G321S

7

Dutch

<10

S6 trans

[15]

c.1044_1051del8

p.A349Pfs

8

Japan

<10

S6-B segment linker

[25]

  1. Abbreviations: cyto cytoplasmic, trans transmembrane, PR Pore region, (P) P-loop