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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