1. Detection of the gene causing Primrose syndrome. 2. Study of molecular and cellular mechanisms leading to the various manifestations of Primrose syndrome.3. Increase our understanding of regulation of heterotopic human calcium depositions
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Detection of the gene causing Primrose syndrome.
Secondary outcome
- Understanding the molecular and cellular mechanisms leading to the various
manifestations of Primrose syndrome.
- better understanding of the regulation of heterotopic calcifications
Background summary
Primrose syndrome is an entity characterized by marked intellectual disability,
unusual face, and abnormal calcium depositions. Affected individuals develop
contractures and show autistiform behaviour. A single man had twice a testis
carcinoma in adolescence. There is at present no therapy to influence the
natural history of the entity.
Study objective
1. Detection of the gene causing Primrose syndrome.
2. Study of molecular and cellular mechanisms leading to the various
manifestations of Primrose syndrome.
3. Increase our understanding of regulation of heterotopic human calcium
depositions
Study design
Whole exome sequencing of 3 persons with the clinical diagnosis Primrose
syndrome, and of one of them also the parents for trio analysis (vcomparison of
variants in results of child with those in parents); if results provide
insufficient information whole exome sequencing will also be performed in the
parents of the two other patients.
Study burden and risks
The risk of blood sampling is limited. There is no benefit of participating in
this study to the participants themselves but there is a group benefit as the
study should provide essential information needed for adequate genetic
counselling and future interventions with respect to epilepsy and behaviour.
Meibergdreef 9
Amsterdam 1105AZ
NL
Meibergdreef 9
Amsterdam 1105AZ
NL
Listed location countries
Age
Inclusion criteria
For patients:
Diagnosed with Primrose syndrome
Parents/caregivers able to read and understand written information
For parents:
Parent of child diagnosed with Primrose syndrome
Able to read and understand written information
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 | NL45451.018.13 |