We aim to obtain more insight in the pathogenesis of DS. This replication study will focus on molecular determinants suchs as methylation and gene transcription. In addition, we will collect phenotypic information and link this with information…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Significant differences in DNA-methylation- and genetranscription profiles
between controls and DS individuals.
Secondary outcome
None.
Background summary
Down syndrome (DS) is the most frequent genetic cause of intellectual
disability. DS is explained by the presence of an extra chromosome 21 which
serves as the fundament of DS-pathogenesis. However, underlying cellular and
molecular processes causing the DS-phenotype remain not well understood. Also,
among DS-individuals a wide variability of phenotypic features can be observed
which can not be explained yet.
Several hypothesis exist regarding the implications and effects of the presence
of an extra copy of chromosome 21. A genome-wide disturbance in methylation by
the presence of an extra copy of chromosome 21 was demonstrated by us in a
previous study (2013-2014).
Study objective
We aim to obtain more insight in the pathogenesis of DS. This replication study
will focus on molecular determinants suchs as methylation and gene
transcription. In addition, we will collect phenotypic information and link
this with information retreived by the molecular studies.
Study design
Observational study with invasive measurements and access to medical file.
Study burden and risks
The samples will be obtained when blood sampling is needed because of clinical
care. Regarding the control individuals the samples will be obtained from the
general lab anonymously ('restmateriaal').
Meibergdreef 9
Amsterdam 1100 DD
NL
Meibergdreef 9
Amsterdam 1100 DD
NL
Listed location countries
Age
Inclusion criteria
Patients:
- Individuals with Down syndrome caused by an extra, not translocated copy of chromosome 21
- Age 0 - 1 yr
Controls
- Individuals without Down syndrome and a non-hereditary disorder fo which blood sampling is needed
- Age 01- yr
Exclusion criteria
Individual with Down syndrome with a major malformation.
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 | NL55315.018.15 |