Table 2 Major clinical findings reported in patients with c.2608 G > A, p (Gly870Ser) mutation in SETBP1 gene
Present case | patient 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]) | |
|---|---|---|---|---|---|---|---|
Gender | Male | Female | Male | Male | Male | Male | Male |
Age | 4-day-old | NA | 1-month-old | 1-month-old | 3-month-old | 6-years-old | 15-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 | + | – | – | – | + | – | – |