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Table 1 Point mutations in SETBP1 gene reported in 26 patients with a clinical diagnosis of Schinzel-Giedion Syndrome

From: The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

Patients reportedMutation site
p.S867Rp.D868Np.D868Ap.S869Cp.G870Cp.G870Dp.G870Sp.I871Sp.I871T
Present case      n = 1  
Carvalho et al., 2015 [6]n = 1n = 1       
Hoischen et al., 2010 [2] n = 4n = 1  n = 1n = 1 n = 5
Volk et al., 2015 [13] n = 1       
Landim et al., 2015 [10]   n = 1     
Ko et al., 2013 [4]      n = 1  
Suphapeetiporn et al., 2011 [5]      n = 2  
Herenger et al., 2015 [9]      n = 2  
Lopez-Gonzalez et al., 2015 [7]    n = 1    
Lestner et al., 2012 [8]        n = 1
Miyake et al., 2015 [11]        n = 1
Takeuchi et al., 2015 [12]       n = 1 
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Italian Journal of Pediatrics

ISSN: 1824-7288

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