Table 1.
The comparison of the patient’s clinical findings with previously reported patients
| Clinical findings | Literature (Tatton-Brown et al., 2011; Gibson et al., 2012; Al-Salem et al., 2013; Tatton-Brown et al., 2013; Usemann et al., 2016; Suri and Dixit, 2017; Lui et al., 2018; Turkkahraman et al., 2021; Oh et al., 2023) | Present case |
|---|---|---|
| Patients, n | 56 | + |
| Gender | 33 females, 23 males | M |
| Mutation type | 49 missenses, 1 frameshift, 1 stop codon, 1 inframe duplication, 1 inframe deletion, 2 splice sites, 1 large deletion | Missense |
| Inheritance | 13 familial, 27 de novo, 16 NA | De novo |
| Tall stature | 49/54 | + |
| Macrocephaly | 22/46 | − |
| Hypertonicity/hypotonicity | 13/43, 22/47 | +/− |
| Mild intellectual disability | 25/51 | + |
| Moderate intellectual disability | 14/51 | − |
| Severe intellectual disability | 2/51 | − |
| Cranial MRI findings* | Ventriculomegaly: 6 individuals Pachy/polymicrogyria: 2 individuals Periventricular leukomalacia: 2 individuals Cerebellar anomalies: 2 individuals | Periventricular leukomalacia |
| Umbilical hernia | 21/44 | + |
| Soft and doughy skin | 19/37 | − |
| Tumor | 5/56** | − |
| Low-pitched cry in infants | 10/27 | − |
| Hydrocele | ||
| Bone age | 29/29 | NA |
| Other findings**** | Cardiac anomalies***, Café au lait macules (2), hemangioma (4), cleft palate (3), strabismus (3), hypermetropia (3), myopia (1), neonatal hypoglycemia (2), neonatal hypocalcemia (1), gastroesophageal reflux (1), hiatal hernia (1), hearing loss (3), cryptorchidism (1), hypospadias (1), scoliosis (9), talipes equinovarus (6), polydactyly (1), afebrile seizures (4) | Gingival hyperplasia Polyhydramnios Cholestasis Afebrile seizure |
NA, not available; +, present; −, absent.
**Thirteen-year-old boy with pre-T cell non-Hodgkin’s lymphoma, 13-month-old boy with acute lymphoblastic leukemia and NBL, 4-year-old girl with NBL, 16-year-old girl with acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis, 7-month-old female with NBL.
***The numbers of individuals shown in parenthesis.
****Mitral valve prolapses in 1 patient, ventricular septal defect in 2 patients and patent ductus arteriosus in 1 patient, mitral insufficiency in 1 patient.