Table 4.
Clinical features of BWS KCNQ1OT1 TSS-DMR LOM cases with rare DNMT1 missense variants.
| Clinical feature | B66 (p.Arg1223His) | B96 (p.His1118Arg) | B97 (p.Arg136Cys) |
|---|---|---|---|
| Birth weight (kg) | 3.1 | 4.54 | 3.43 |
| Neonatal hypoglycaemia | Y | N | N |
| Exomphalos/umbilical hernia | Y | Y | N |
| Macroglossia | Y | Y | Y |
| Macrosomia | N | Y | Y |
| Ear creases | Y | N | Y |
| Malignancy | N | N | N |
| Facial naevus flammeus | N | N | N |
| Body asymmetry | N | N | N |
| Genitourinary abnormality | N | N | |
| Hepatomegaly | Y | N | N |
| Nephromegaly | N | N | N |
| ART | Y | N | N |
| Family history | N | Y (sibling affected) | N |
| Sex | F | F | M |