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Table 3 Spectrum of GATA4 mutations (nonsynonymous and 3'-UTR) in diseased tissues of malformed hearts

From: Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)

Patient

Age

Total defects*

Detected mutations

  
   

Coding (ns)***

3'-UTR

Total

VSDs

     

C06VSD**

1h

3

F211L, Y244C, R260Q, C292R

 

4

C10VSD

stillborn

6

C292R

 

1

C19VSD

3 mo

4

C292R

 

1

C58VSD

18 d

5

C292R

c.+77C>T

2

D01VSD

aborted

3

C292R

 

1

D03VSD

2 mo

4

C292R

 

1

E03VSD**

6 mo

2

 

c.+77C>T

1

E04VSD**

5 wk

2

C292R

 

1

E08VSD

53 yr

1

C292R

 

1

E10VSD

6 mo

4

G214S

 

1

E11VSD

newborn

1

 

c.+10T>C

1

E13VSD

16 yr

1

N239S, C292R

 

2

E15VSD

8 mo

2

N239D

 

1

E16VSD

3 mo

3

M361V

 

1

E20VSD

2 d

3

  

0

E22VSD

4 mo

3

F208L, C292R

 

2

E23VSD**

22 d

3

L261P, C292R

 

2

E26VSD

6 mo

3

C292R, S377N

c.+479A>G

3

E27VSD

5 mo

2

M223T, R229S, C292R

c.+462T>C

4

E28VSD

5 mo

2

 

c.+44T>A

1

E29VSD

8 wk

3

C292R

 

1

E31VSD

5 mo

2

  

0

E33VSD

14 yr

1

A442T

 

1

E34VSD

3 mo

2

  

0

E35VSD

4.5 mo

2

C292R

 

1

E39VSD

9 mo

3

C292R

c.+218C>T, c.+259A>G

3

E40VSD

15 mo

1

C292R

 

1

E41VSD

23 yr

2

C292R

c.+280T>C

2

E49VSD

newborn

3

C292R

c.+442A>G

2

ASDs

     

C09ASD

26 yr

2

  

0

C39ASD

25 yr

4

C292R

 

1

C45ASD

6 d

7

C292R, L432S

c.+280T>C, c.+462T>C

4

C46ASD

34 yr

3

C292R

c.+10T>C, c.+259A>G, c.+462T>C

4

C64ASD

11 mo

4

C292R

 

1

C75ASD

2 mo

6

C292R

 

1

D30ASD

11 yr

3

L430V

 

1

D33ASD

8 yr

2

N248S, L261P

c.+462T>C, c.+479A>G

4

F17ASD

4 1/2 h

1

 

c.+280T>C

1

F19ASD

8 yr

4

 

c.+462T>C

1

F20ASD

10 yr

1

  

0

F24ASD

6 yr

3

 

c.+280T>C

1

27ASD

7 yr

2

C292R

c.+442A>G

2

F29ASD

14 yr

8

I255T, A294V

c.+10T>C

3

F30ASD

1 d

2

  

0

F32ASD

38 yr

1

R229S

 

1

AVSDs

     

C43AVSD

10 mo

7

H302R

c.+10T>C

2

C70/2AVSD**

8 mo

6

G234S, R252P, C292R

 

3

C71AVSD**

4 d

5

 

c.+10T>C, c.+442A>G

2

E05AVSD

16 wk

6

 

c.+10T>C

1

E36AVSD**

3.5 mo

4

  

0

E43AVSD

4.5 mo

4

R283H

 

1

F00AVSD**

6 wk

5

 

c.+44T>A, c.+218C>T

2

F02AVSD

10 mo

7

N248S

c.+77C>T

2

F03AVSD**

1 mo

4

 

c.+44T>A

1

F04AVSD**

11 wk

5

C292R

c.+218C>T, c.+259A>G

3

F05AVSD**

10 wk

4

F211L, R229S, Y244C, N285K

 

4

F08AVSD**

5 mo

5

P226fs

 

1

F11AVSD**

7 mo

6

C292R

c.+77C>T

2

F12AVSD

6 mo

5

R266X

 

1

F13AVSD**

25 mo

5

C292R

 

1

F14AVSD**

1 mo

5

T277I, C292R

 

2

F14aAVSD**

5 wk

5

 

c.+462T>C

1

F15AVSD

5 d

7

 

c.+218C>T, c.+259A>G

2

F18AVSD**

7 mo

5

  

0

F28AVSD

8 yr

3

N273S, L430V

 

2

F31AVSD**

8 d

6

 

c.+479A>G

1

F38AVSD

3 mo

4

C292R

c.+10T>C, c.+77C>T, c.+280T>C

4

F40AVSD

10 mo

3

 

c.+44T>A

1

  1. * Heart malformations described earlier in Reamon-Buettner et al. 2004 Am J Pathol 2004, 164:2117–2125.
  2. ** Down syndrome
  3. *** nonsynonymous GATA4 mutations in exons 3 and 4 reported earlier in Reamon-Buettner and Borlak 2005, J Med Genet 42:e32; new mutations detected in exons 6 and 7 are in bold
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