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Table 4 Genotype-phenotype correlations of USH patients with both mutations found in this study

From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Patient

Mutations

Year of Birth

Diagnosis

Age of diagnosis

Sensorineural Hearing Loss

Vestibular Function

Onset of Night Blindness

Onset of Visual Field Loss

Visual Field

Visual Acuity

Eye Fundus

ERG

Cataracts

RP1310*

c.12067-2A > G/c.12067-2A > G

 

USHNC

          

RP1274*

p.E1492X/p.E1492X

1969

USH2

 

Moderate-severe and stable

NormalA

    

1

  

RP1633

p.E1492X/p.E1492X

1962

USH2

25

Since infancy

NormalA

25

25

Concentric loss

0,2/0,4

1

No response

BE

RP1607

p.G3546R/p.G3546R

1925

USH2

33

Mild-moderate

NormalA

16

25

Marked concentric loss

0,6/0,6

1

Moderate alteration

BE

RP1599*

c.1214delA/c.1214delA

1980

USH2

 

Moderate, since infancy

NormalA

20

30

Moderate concentric loss

0,6/0,7

1

Moderate alteration

BE

RP259

c.1214delA/p.C3267R

1974

USHA

19

Profound since 6 years

Vestibular Dysfunction A

6

 

Concentric loss (19 years)

0,35/0,35 (19 years)

1

No response

No (19 years)

RP1349

c.2299delG/c.1214delA

1954

USH2

 

Moderate-severe

NormalB

15

20

Marked concentric loss

0,4/0,3 (30 years)

2

  

RP1493

c.2299delG/c.8890dupT

1973

USH2

30

Congenital, moderate and stable

NormalB

29

29

Concentric loss (at 31 years)

Normal (31 years)

1

No response (31 years)

No (31 years)

RP1632

c.2299delG/c.8954delG

1961

USH2

 

Since infancy

NormalB

23

25

 

<0,1BE

2

No response

BE

RP1715*

c.2299delG/c.1629_1645del

1986

USH2

22

Moderate and stable since 6 years

NormalB

16

20

Slight concentric loss (at 25 years)

Normal (25 years)

1

No response

No

RP1775

c.2299delG/p.R303H #

1961

USHA

30

Moderate since 7 years and progressive

 

23

22

     

RP1618

p.C3267R/c.6319_6324delinsTAAA

1964

USH2

 

Severe-profound

NormalA

30

30

Marked concentric loss

0,1/0,1

2

No response

BE

RP1442*

p.C3267R/c.12093delC

1962

USH2

20

Congenital, moderate and stable

NormalB

15

20

Concentric loss, 5° (at 43 years)

0,5/0,2 (43 years)

2

 

LE (37 years) RE (43 years)

RP1703*

p.C3267R/p.C3358Y

1936

USHA

50

Since 64 years

 

50

55

Reduced (67 years)

 

1

 

Yes

RP1759

p.C3267R/p.Y1992C#

1945

USH2

62

Congenital, moderate and stable

NormalB

 

62

   

Abnormal response

Yes (62 years)

RP1625*

c.12067-2A > G/p.R274X

1976

USH2

25

Since infancy

NormalA

19

24

Concentric loss

0,1/0,1

2

No response

BE

RP1631

c.1841-2A > G/p.R274X

1976

USH2

 

Since infancy

NormalA

28

28

Concentric loss

0,7/0,6

1

 

No

RP951

c.1214delA/p.C3251X

1969

USH2

25

Congenital, severe and stable

NormalB

25

18

Reduced (23 years)

 

2

No response (30 years)

No (30 years)

RP1558

p.R1549X/c.1328 + 1G > T

1933

USH2

43

Severe and progressive since 20 years

NormalB

Before puberty

 

-10°C

0,007/0.03

2

  

RP1539*

p.R1295X/p.N3894D#

1987

USH2

20

Congenital, moderate and stable

NormalB

20

17

Concentric loss (20 years)

 

2

  

RP1172*

c.10272_10273dupTT/p.W2618X

1964

USH2

23

Moderate and stable since 7 years

NormalB

23

18

Concentric loss (38 years)

  

No response (39 years)

 

RP1641*

p.C759F/p.W4725X

1967

USHA

 

Moderate and progressive

Central vestibular pathology A

18

22

Marked concentric loss

0,1/0,2

2

No response

BE

RP1667*

p.C759F/c.11548 + 2T > G

1954

USH2

15

Mild and slightly progressive

NormalB

15

8

    

RE (30 years)

RP690M*

p.P4818L/p.Q3368X + c.5278delG

1972

USH2

22

Congenital, moderate and stable

NormalA

22

8

 

0,3/0,3 (32 years)

1

No response (31 years)

BE (25 years)

RP532

p.Y506X/p.Q3587X

1968

USH2

 

Profound

NormalA

15

20

Marked concentric loss

0,1/0,1

2

No response

BE

RP946*

p.Q3587X/p.E2496E

1982

USHNC

17

         

RP1613

c.9260delT/p.G44R

1971

USH2

30

Severe

NormalA

20

20

Marked concentric loss

0,1/0,6

2

Abnormal response

BE

RP1615

c.11566delA/c.15053-1G > A

1975

USH2

27

Moderate since infancy

NormalA

24

25

Marked concentric loss

0,5/0,5

2

No response

BE

  1. * Parental origin of the mutations was determined; #Patients with possibly pathogenic mutations (UV3).
  2. Age of diagnosis, onset of night blindness and visual field loss are expressed in years.
  3. A: results of clinical examinations; B: self reported symptoms.
  4. Eye fundus 1: Bone spicules deposits, attenuation of vessels and waxy pollar of the optic nerve head. Eye fundus 2: 1 + macular affectation.
  5. ERG: Electroretinography; BE: Both Eyes; LE: Left Eye; RE: Right Eye.
  6. Patients clinically classified as USHA or USHNC are highlighted in bold.