| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
|
|
in myelodysplastic syndrome in progression and in acute leukemia |
| constitutional
|
|
| --low
|
|
|
in glomerulonephritis or mesanglial scelerosis |
| tumoral
|
| translocation
|
|
|
|
with EWSR1 t(11;22) (p13;q12) in desmoplastic round-cell tumor |
| constitutional
| germinal mutation
|
|
|
|
|
in renal failure |
| tumoral
|
|
| --over
|
|
|
in breast cancer with poor prognosis |
| constitutional
| germinal mutation
|
|
|
|
|
in exons 8 and 9 in steroid-resistant nephrotic syndrome |
| tumoral
|
|
|
| loss of function
|
|
in WILMS tumor |
| constitutional
|
|
|
|
|
|
association with congenital diaphragmatic hernia (see DDS) |
| tumoral
|
|
| --over
|
|
in pediatric acute myeloid leukemia but does not predict survival  |
| constitutional
|
|
| --low
|
|
|
in Sertoli cells results in the downregulation of the important basal lamina component, which in turn, causes the breakdown of the basal lamina and subsequent testicular cord disruption |
