Few individuals with mutations in BCL11A and intellectual developmental disorders are reposted in the medical literature and clinical genetics databases. Therefore, details about the clinical features and natural history are lacking, and disease-specific management and intervention is limited. Detailed and longitudinal characterisation of patients will aid the prediction of likely outcomes and inform disease management.
The overall aims of our research are:
- To identify individuals with mutations in BCL11A and intellectual developmental disorders.
- To characterise the clinical spectrum.
- To determine the natural history of disease through collection of longitudinal data.
- To perform genotype-phenotype correlation analysis for potential mutation-based patient stratification.
- To delineate of surveillance guidelines for individuals with BCL11A-associatedintellectual disability with persistence of fetal hemoglobin syndrome.
We invite collaborations through the submission of clinical and genetic information, which can be uploaded directly onto to this website’s database. We appreciate clinical photographs and brain MRI images if available.
Instructions for the clinician involved:
- Please request written consent for the use and storage of medical information with or without photographs.
- Enter the clinical information using the submission interface.
- E-mail photographs to firstname.lastname@example.org or email@example.com.
- Post or e-mail the consent form and/or MRI images to the contact below.
Any additional questions or enquiries should be directed to:
Angela Peron, MD
Centro Epilessia (9° piano, blocco B)
Ospedale San Paolo
Via di Rudinì 8
20142 Milano, Italy
Phone: +39 02 8184 4201
Fax: + 39 02 5032 3159
Cristina Dias, MD, PhD
The Francis Crick Institute
1 Midland Road
NW1 1AT, London, UK
Phone: +44 (0) )2037962922