Table 1 Point mutations in SETBP1 gene reported in 26 patients with a clinical diagnosis of Schinzel-Giedion Syndrome
Patients reported | Mutation site | ||||||||
|---|---|---|---|---|---|---|---|---|---|
p.S867R | p.D868N | p.D868A | p.S869C | p.G870C | p.G870D | p.G870S | p.I871S | p.I871T | |
Present case | n = 1 | ||||||||
Carvalho et al., 2015 [6] | n = 1 | n = 1 | |||||||
Hoischen et al., 2010 [2] | n = 4 | n = 1 | n = 1 | n = 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 | ||||||||