| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
| germinal mutation
|
|
|
|
|
in approximatively 5p100 of sporadic Beckwith-Wiedemann syndrome and 40 p100 of familial cases |
| constitutional
|
|
| --low
|
|
|
(imprinting domain involving KCNQ10T1/CDKN1C) in BWS |
| tumoral
|
|
| --low
|
|
|
in sporadic cases without deleted mutation of Beckwith Wiedemann and in large colorectal tumor |
| constitutional
|
|
| --low
|
|
|
in biparental complete hydatiform mole |
| constitutional
|
|
|
|
|
|
(by silencing) associated or not with hypomethylation of KCNQ1OT1 in BWS |
| tumoral
|
|
|
|
|
|
silenced by loss of methylation in esophageal cancer (associated with loss of CpG and histone H3 lysine 9 methylation at KCNQ1OT1) |
| tumoral
|
|
| --low
|
|
in urothelial carcinomas  |
| constitutional
|
|
| --low
|
|
|
transiently down-regulated under inflammatory, demyelinating, pathophysiological conditions before the onset of multiple sclerosis remission |
| tumoral
|
|
| --low
|
|
|
associated with poor disease outcome in patients with cutaneous T-cell lymphoma, while upregulation of AHI1 shows a weak association with aggressive disease course |
| tumoral
|
|
| --over
|
|
|
in human retinoblastomas |
| constitutional
| imprinting
| LOI
|
|
|
|
loss of imprinting of Cdkn1c protects against diet-induced obesity |
