New syndromes in old genes; phenotypes caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

New syndromes in old genes; phenotypes caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome - CEEx study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON46364

Enrollment

Registered

2018-08-10

Start date

2018-08-04

Completion date

Unknown

Last updated

2024-08-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

at the end of exon 30 or beginning of exon 31) intellectual disability due to mutations in CEEx30/31 (CREBBP or EP300

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
We will compare the effects of the variants in CEEx30/31 with those of RSTS patients (CREBBP loss-of-function), patients with a duplication of CREBBP (CREBBP gain-of-function), and healthy controls on i) gene expression by RNA-Seq, ii) activity of DNA segments by ATAC-Seq, and iii) protein interactions with DNA using ChIP-seq.	—

Secondary

Measure	Time frame
n.a.	—

Countries

Netherlands

Outcome results