Molecular phenotyping of MCA/ID patients to improve diagnosis
Completed
- Conditions
- Congenital abnormalitiesintellectual disability10083624
- Registration Number
- NL-OMON45939
- Lead Sponsor
- niversitair Medisch Centrum Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 110
Inclusion Criteria
* Patient has MCA/ID and is already in the diagnostic clinical genetic circuit at the UMCU.
* Patient lack a diagnosis from regular diagnostic testing (aCGH, WES)
* Both parents are available for blood sampling
* Parents have to give consent for the patient
Exclusion Criteria
* One or both Parents do not give consent
* MCA/ID patient carries a recurrent/described SV with a causal variant (i.e. patient has a diagnosis: only undiagnosed MCA/ID patients will be included in this cohort).
* One or more of the parents is not available for blood sampling
* Patients are younger than 2 years of age
* Blood sampling is not possible from the patient for medical reasons
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>This study will generate a genomics dataset from patient-parent trios at the<br /><br>DNA, RNA and epigenome level. These data will help to better diagnose this<br /><br>group of patients. Therefore, results from this study can help in the routine<br /><br>diagnostic care of this patient group. These results will then be shared with<br /><br>the clinical geneticists involved in this study through routine care<br /><br>mechanisms. </p><br>
- Secondary Outcome Measures
Name Time Method <p>The results from this study could also generate new genes and/or mechanisms<br /><br>that are important in the etiology of MCA/ID as a syndrome.</p><br>