This website provides information on patients with mutations in the BCL11A gene, including the type of mutations, management and research options.
The syndrome is caused by haploinsufficiency of the B-cell CLL/Lymphoma 11A gene (BCL11A), located on chromosome 2p16.1 and encoding a transcription factor belonging to the SWI/SNF chromatin remodelling complex.
The syndrome caused by mutations or deletions in the BCL11A gene, also known as Dias-Logan syndrome (OMIM # 717101), is a multisystem disorder characterized by developmental delay/intellectual disability and persistence of fetal hemoglobin. Microcephaly, hypotonia, distinctive but variable facial characteristics, abnormal brain MRI findings, and seizures have been described.
Not all individuals with a mutation in the BCL11A gene have all of these features. This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BCL11A gene.
Angela Peron, MD, Child Neuropsychiatric Unit - Epilepsy Center, San Paolo Hospital, Department of Health Sciences Università degli Studi di Milano, Milan, Italy / Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA, firstname.lastname@example.org
Cristina Dias, MD, PhD, Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, King's College London, UK / The Francis Crick Institute, London, UK, email@example.com / firstname.lastname@example.org
David Viskochil, MD, PhD, Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA, email@example.com