How is the genetic expression of EXT1 and EXT2 in our HME/MO population and how does this related to the severity of the disease.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Ext 1 of Ext 2 genmuation, or no mutation found.
Secondary outcome
Etnic Origin, Height, Age of onset HME/MO, Number of osteochondromas at a
certain age. Site of osteochondromas. Development of osteochondromas. Family
history
Background summary
Hereditaire Multiple Exostosis (HME)/Multiple Osteochondromas (MO) is a
hereditairy skeletal disease. It is rare with a calculated prevalence of 1 in
50.000 people. HME/MO has a autosomal dominant patern. Two genes have been
isolated; EXT 1 en EXT2. About 62% of the patients have a positive family
history. The other cases are spontanous mutations. Patients with HME/MO
develope osteochondromas at the growth plates at a young age. These
osteochondromas are mainly located in the long bones but also in the pelvis,
shoulder, hand and feet. The osteochondromas cause painsymptoms, limb
deformities and functinal impairment in the growing child.
The Onze Lieve Vrouwe Gasthuis in Amsterdam is the refferal centre in the
Nederlands for the treatment of patients with HME/MO. We have treated more then
300 patiënten with this disease. A unique cohort. We cooperate with the HME/MO
patients support organisation.
There is little known about the genetic characteristics in the Dutch
population. The medical genetic department of the Universitity of Antwerp has
world wide experience in this field. In cooperation with them we want to
investigate the incidence of these gene mutations. This is further explained in
the research protocol.
Study objective
How is the genetic expression of EXT1 and EXT2 in our HME/MO population and how
does this related to the severity of the disease.
Study design
Observational study in a Dutch HME/MO cohort.
Study burden and risks
Hematoma from blood test
Oosterpark 9
1090 HM Amsterdam
NL
Oosterpark 9
1090 HM Amsterdam
NL
Listed location countries
Age
Inclusion criteria
Patient with HME/MO
Exclusion criteria
Previous genetic research done that showed a Ext 1 or 2 mutation.
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 |
|---|---|
| Other | dit volgt nog. |
| CCMO | NL37625.100.11 |