ew syndromes in old genes; phenotypes caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Completed
- Conditions
- at the end of exon 30 or beginning of exon 31)intellectual disability due to mutations in CEEx30/31 (CREBBP or EP30010083624
- Registration Number
- NL-OMON46364
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 36
Inclusion Criteria
1. Individuals with either a) a mutation in CEEx30/31, b) RSTS, c) a dup 16p13.3, d) a dup 22q13.2, and e) healthy age-, and sex-matched controls.
2. availability of stored fibroblasts or a planned surgical intervention for patient care reasons
3. Patients and/or parent(s)/caregiver(s)/legal representatives able to provide written permission
Exclusion Criteria
none
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>We will compare the effects of the variants in CEEx30/31 with those of RSTS<br /><br>patients (CREBBP loss-of-function), patients with a duplication of CREBBP<br /><br>(CREBBP gain-of-function), and healthy controls on i) gene expression by<br /><br>RNA-Seq, ii) activity of DNA segments by ATAC-Seq, and iii) protein<br /><br>interactions with DNA using ChIP-seq. </p><br>
- Secondary Outcome Measures
Name Time Method <p>n.a.</p><br>