Autoszomális recesszív
Caused by loss-of-function changes in both copies of DIS3L2, which encodes an enzyme that breaks down certain RNA molecules. Its loss disturbs growth control in developing tissues.
Tünetek és jelek
Overgrowth before birth with excess amniotic fluid (polyhydramnios), a large birth weight, distinctive facial features and abnormal kidney development (renal dysplasia). Neonatal mortality is high, and survivors have a high risk of Wilms tumour and developmental delay.
Mit változtat a diagnózis
Children need monitoring for Wilms tumour through early childhood, along with neonatal and developmental care. Both parents of an affected child are usually carriers, so further children are at risk; genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour; nephroblastomatosis fetal ascites macrosomia and Wilms tumor; nephroblastomatosis foetal ascites macrosomia and Wilms tumour; nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome; nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome; PRLMNS; renal hamartomas, nephroblastomatosis and fetal gigantism; renal hamartomas, nephroblastomatosis and foetal gigantism
