| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --other
|
| |
hypo or hypermethylation incomplete in BWS patients, not associated with increased tumor risk (but increased frequence of midline abdominal-wall defects and macrosomia) | | constitutional
|
| LOI
|
|
| |
5' end hypomethylation in familial or sporadic cases of BWS (disturbing imprinting switch mechanism) and in liver, breast, cervical and gastric carcinoma | | constitutional
|
| LOI
|
|
|
through factors interfering with normal oocyte differentiation such as gonadotrophin stimulation and in vitro maturation (IVM) (may possibly alter imprint resetting) | | constitutional
|
|
|
| gain of function
| |
loss of methylation on the maternal allele correlated with loss of histone H3 lysine 9 methylation in BWS (50 percent of the cases) | |
