Gene/phenotype/disorder under study
Rubsintein-Taybi syndrome (MIM 180849 & MIM 613684)
Abstract
We are seeking individuals diagnosed with Rubinstein-Taybi syndrome (RTS) carrying a pathogenic or likely pathogenic variant (ACMG class 5 or 4) in either CREBBP or EP300,
inherited from a constitutionally affected parent.
The aim of this study is to better characterize familial forms of RTS at the clinical, molecular,
and epigenetic levels, notably through episignature analysis on peripheral blood.
Inclusion criteria:
• Single nucleotide variant (SNV) or structural variant (SV) in CREBBP or EP300,
classified as ACMG class 4 or class 5
• Clinical phenotype of RTS in both the proband and the affected parent
• Confirmed parental transmission from a constitutionally affected parent
Exclusion criteria:
• Variant of uncertain significance (ACMG class 3) in CREBBP or EP300
• Somatic/germline mosaicism in the affected parent
Required material for each affected family member (child(ren) and affected parent):
• Clinical and molecular data sheet (sent upon request)
• Clinical photographs with prior consent for publication (1- Frontal and lateral view, 2- hands, 3- feet)
• Peripheral blood-derived DNA sample from a previously conducted genetic testing
(episignature analysis)
Coordinating clinicians
Dr Julien Van Gils: julien.van-gils@chu-bordeaux.fr
Dr Quentin Sabbagh: q-sabbagh@chu-montpellier.fr
Institution
Department of Medical Genetics – Bordeaux University Hospital (Bordeaux, France)
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No