Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The molecular and phenotypic differences of naïve and primed iPSCs obtained
from discordant BWS MZ twins.
Secondary outcome
Obtaining insight in the mechanism behind the splitting of the ICM for the
birth of identical twins, which will have direct relevance to the study of
embryonic pluripotency.
Background summary
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth congenital disorder with an
increased frequency of monozygotic (MZ) twinning, in which the MZ twins
predominantly are discordant for BWS. The aetiology of this increased MZ
twinning frequency remains unknown. Examining this unique phenomenon is
expected lead to a better understanding of the process of MZ twinning,
epigenetic methylation disturbances, and human embryonic pluripotency. We
hypothesize that by investigating the molecular and phenotypic differences of
induced pluripotent stem cells (iPSCs) derived from skin fibroblasts of
discordant BWS MZ twin pairs the pathogenesis of this process can be uncovered.
Study objective
Investigating the molecular and phenotypic differences of iPSCs established
from skin fibroblasts of discordant MZ BWS twin pairs.
Study design
Case-control study in which within each MZ twin pair the healthy twin controls
for the BWS twin.
In participants 16 years or above a skin biopsy will be performed; in
participants under 16 years of age subcutis will be obtained during a surgical
intervention performed for care purposes.
Study burden and risks
A skin biopsy in an adult causes limited burden to a person. A biopsy of 2-3 mm
does not need stitching, and leaves a very small scar. Obtaining subcutis from
an incision during surgery in a child causes no burden to the child. There is
no benefit for the participants. In the future there may be a group benefit if
it offers insight in the occurrence of methylation disturbances that can be
prevented.
Meibergdreef 9
Amsterdam 1105 AZ
NL
Meibergdreef 9
Amsterdam 1105 AZ
NL
Listed location countries
Age
Inclusion criteria
1) Monozygotic twins
2) Discordant for Beckwith-Wiedemann syndrome
3) BWS clinical diagnosis molecularly confirmed
4) Able and willing to provide written informed consent to the study
Exclusion criteria
none
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL62045.018.17 |