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Table 3 Presumably pathogenic DNA variants

From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Gene

Nucleotide change

Exon

Amino acid change

Protein domain

Frequency in

USH alleles

(×/108)

Frequency in

control alleles

Patient origin

& reference

MYO7A

       
 

487G>C

6

G163R

Motor head

1

0/306

Algeria [27]

 

494C>T

6

T165M

Motor head

1

0/306

Great Britain, France [58]

 

803A>G

8

K268R

Motor head

1

0/306

This study

 

805_807delAAG

8

K269del

Motor head

1

0/306

Italy, France [63]

 

1370C>T

13

A457V

Motor head

1

0/306

Ireland, France [63]

 

3659C>T

29

P1220L

MyTH4 (1)

1

0/666

This study

 

3719G>A

29

R1240Q

MyTH4 (1)

2

0/306

Denmark, Great Britain/France [62]

 

5648G>A

41

R1883Q

MyTH4 (2)

1

0/306

USA [58]

 

5887_5889delTTC

43

F1963del

FERM (2)

1

 

Europe, USA [24]

 

6657T>C

48

L2186P

FERM (2)

1

0/666

France [85]

USH1C

       
 

308G>A

4

R103H

PDZ1

1

0/306

France [27]

 

1069C>T

13

R357W

Coiled-coil

1

0/498

This study

CDH23

       
 

2263C>T

20

H755Y

cd7

1

0/306

USA [56]

 

3178C>T

26

R1060W

cd10

1

0/626

Europe [55]

 

3565C>T

29

R1189W

cd11

1

0/306

This study

 

4136G>C

33

R1379P

cd13

1

0/306

This study

 

7916A>G

55

D2639G

cd25

1

0/306

This study

 

9127C>T

62

R3043W

adjacent to TM

(extracellular)

1

0/490

This study

PCDH15

       
 

3817C>A

29

R1273S

cd11

1

0/306

This study

USH1G

       
 

46C>G

1

L16V

 

1

0/666

This study

USH2A

       
 

653T>A

4

V218E

Nter laminin

1

0/306

Great Britain [86]

 

908G>A

6

R303H

Nter laminin

1

0/306

USA [87]

 

949C>A

6

R317R

Nter laminin

1

0/306

Netherlands [60]

 

1055C>T

6

T352I

Nter laminin

1

0/306

Norway [28]

 

1606T>C

9

C536R

1st laminin EGF-like

1

0/306

Denmark [81]

 

1724G>A

10

C575Y

2nd laminin EGF-like

1

0/306

This study

 

3902G>T

18

G1301V

14th FnIII

1

0/484

This study

 

8254G>A

42

G2752R

3rd laminin EGF-like

1

0/306

Japan [88]

 

9921T>G

50

C3307W

18th-19th FnIII

1

0/482

This study

 

10712C>T

54

T3571M

20th FnIII

2

0/306

Spain [89]

 

14426C>T

66

T4809I

33rd FnIII

1

0/306

Canada [90]

VLGR1

       
 

5830G>A

28

D1944N

13th -14th β-Calx

1

0/306

This study

 

10196A>C

49

H3399P

4th EAR

1

0/306

This study

 

14119G>T

70

D4707Y

32nd β-Calx

1

0/446

This study

 

14654A>G

71

N4885S

32nd -33rd β-Calx

1

0/486

This study

 

16377G>T

77

Q5459H

35th β-Calx

1

0/402

This study

WHRN

       
 

33C>G

1

S11R

A/G/S rich region

1

0/494

This study

 

1135C>T

4

R379W

PDZ2

1

0/306

This study

  1. Novel mutations are in bold.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172