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Table 2 Major clinical findings reported in patients with c.2608 G > A, p (Gly870Ser) mutation in SETBP1 gene

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

 Present casepatient 1
(Hoischen et al., 2010 [2])
patient 2
(Suphapeetiporn et al., 2011 [5])
patient 3
(Suphapeetiporn et al., 2011 [5])
patient 4
(Ko et al., 2013 [4])
patient 5
(Herenger et al., 2015 [9])
patient 6
(Herenger et al., 2015 [9])
GenderMaleFemaleMaleMaleMaleMaleMale
Age4-day-oldNA1-month-old1-month-old3-month-old6-years-old15-years-old
Developmental delay+++++++
Seizures+++++++
Vision impairment+NA+++
Ventriculomegaly+NA+++++
Abnormal pattern of myelination+
Hearing impairment+++NA+++
Typical craniofacial features+++++++
Genital anomalies+++++++
Hydronephrosis or vesicoureteral reflux++++++
Cardiac defect++NA
Characteristic skeletal malformation+++++++
Feeding problems++
  1. + = feature present; − = feature absent; NA = feature not reported