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Advancing knowledge, together.
Dias-Logan Syndrome (BCL11A-IDD) remains poorly documented.
Given the limited information currently available, our association has created a questionnaire for affected families to help us better understand their journeys, symptoms and everyday experiences.
These data are collected as part of our association’s work.
They help us identify common features, differences and the needs expressed by families.
Every contribution helps expand our collective knowledge of the syndrome.
Où en sommes-nous?
Where are we now?
Today, our initiative has helped bring together an international community of families affected by Dias-Logan syndrome (BCL11A-IDD).
More than 70 families have already taken part in our association questionnaire.
Their responses help us better identify common features, differences, and the diversity of experiences among families.
This approach continues to grow with every new participation.
The more families take part, the clearer and more complete our overall picture of life with the syndrome becomes.
Fisrt obervations
Premières observations
The responses collected through our association questionnaire highlight some recurring trends in the everyday experiences of people affected by Dias-Logan syndrome (BCL11A-IDD).
This information is based on voluntary reports from families and helps illustrate the diversity of profiles, difficulties encountered, and support received.
It does not constitute a clinical or scientific study and does not allow medical conclusions to be drawn.
The graphs below provide a descriptive overview of the responses collected to date from 74 families.
Daily reported symptoms
The responses collected show a wide range of symptoms reported by families.
Difficulties related to attention, motor skills, language and hypotonia are among the most frequently reported.
Behavioral, sensory and sleep-related difficulties are also reported.
Multiple responses were possible for each participant.
Self-reported date from families collected through the association questionnaire.
Areas that remain challenging
This chart shows the areas that families still describe as challenging in everyday life, despite time, learning and the support already in place.
The most frequently reported difficulties relate to attention and concentration, communication and behavior.
Autonomy, motor skills and sensory aspects are also often mentioned by families.
Multiple responses were possible for each participant.
Self-reported date from families collected through the association questionnaire.
Intellectual disability (if known)
When this information is known, the responses from families show a wide range of reported levels of intellectual disability.
Moderate intellectual disability is the most frequently reported situation in our questionnaire. For some individuals, assessment is still in progress or this information is not known.
Self-reported date from families collected through the association questionnaire.
Areas showing improvement
Families report improvements over time in several areas, particularly communication, motor skills and autonomy.
Improvements are also reported in attention, concentration and emotional regulation.
Multiple responses were possible for each participant.
Self-reported date from families collected through the association questionnaire.
Therapies and support received
The responses collected show that several types of support are often combined.
Speech therapy, educational support, occupational therapy and psychomotor therapy are among the forms of support most frequently reported by families.
Multiple responses were possible for each participant.
Self-reported date from families collected through the association questionnaire.
Scientific publications
Publications scientifiques
This page brings together a selection of scientific publications related to Dias-Logan syndrome / BCL11A-IDD.
Our aim is to make this research more accessible to families by providing a clear summary of each publication and a link to the original source.
GeneReviews – BCL11A-Related Intellectual DisabilityAngela Peron, Kimberley Bradbury, David H. Viskochil, Cristina Dias
2019
Summary:
BCL11A-related syndrome is associated with developmental delay and/or intellectual disability of varying severity, hypotonia, microcephaly, behavioral difficulties, and persistence of fetal hemoglobin. Epileptic seizures and autism spectrum features have also been reported in some individuals.
Diagnosis is based on the identification of a pathogenic variant in the BCL11A gene through genetic testing.
Management is mainly symptomatic and tailored to the individual needs of each person.
Link to the article:
https://pubmed.ncbi.nlm.nih.gov/31556984/
Cristina Dias et al. – American Journal of Human Genetics
2016
Summary:
This study shows that variants affecting the BCL11A gene can cause a neurodevelopmental disorder associated with features including intellectual disability, developmental delay, and microcephaly.
The authors show that these variants disrupt the normal function of BCL11A, a gene that plays an important role in brain development.
Studies using animal models also helped improve understanding of the role of this gene in neurological development.
Link to the article:
https://pubmed.ncbi.nlm.nih.gov/27453576/
Angela Peron et al. – European Journal of Human Genetics
2025
Summary:
This international study includes 77 individuals with BCL11A-IDD (Dias-Logan syndrome) and helps further define the clinical spectrum of the syndrome.
The most frequently reported features include intellectual disability, postnatal microcephaly, hypotonia, behavioral difficulties, autism spectrum features, and persistence of fetal hemoglobin.
The study also identifies autonomic dysregulation as a newly recognized feature of the syndrome and provides further details on certain brainstem abnormalities.
It also highlights trends between specific BCL11A variants and the severity of some clinical features.
Link to the article:
https://pubmed.ncbi.nlm.nih.gov/39448799/
Database:
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Orphanet (European database dedicated to rare diseases)
Orpha code: 619233
https://www.orpha.net/fr/disease/detail/619233#
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OMIM (American database focused on human genes and genetic diseases)
OMIM Code: 617101
The researchers behind the syndrome
Dr Dias et Dr Logan
Darren Logan
Biography
Darren Logan obtained a Master's degree in biochemistry from the University of Bath, before pursuing a PhD at the MRC Human Genetics Unit in Edinburgh.
He then joined the Scripps Research Institute in San Diego for his postdoctoral research, where he received a Skaggs fellowship to study the genetic basis of behavior.
In early 2010, he joined the Wellcome Sanger Institute in Cambridge as a member of the model organisms program. His team there studied the genes that allow mammals to detect, interpret, and respond appropriately to stimuli in their environment. During this period, his team worked on candidate genes involved in intellectual disabilities, including TRAPPC9, KPTN, and BCL11A—work that led to the description of a disorder now known as Dias-Logan syndrome.
In 2013, he was appointed EMBO junior investigator, then combined his role at Sanger with a position at the Monell Chemical Senses Center in Philadelphia.
In 2016, Darren joined Mars Incorporated at the Waltham Petcare Science Institute where, as Director of Research, he leads a multidisciplinary team of over 90 researchers and veterinarians, with the goal of improving the health and well-being of pets and their owners.
In 2024, he was promoted to Vice President of Research at Mars, with responsibility for global and long-term research programs covering health and well-being, sustainability, artificial intelligence, and food security.
During his career, Darren has published over 75 scientific articles, given hundreds of lectures and presentations, and contributed to the development of innovations integrated into products and services used by millions of people.
Cristina Dias
Biography
Dr. Cristina Dias is a physician with over 25 years of experience. As a clinical geneticist, she has practiced in Europe, Canada, and the United Kingdom, where she is currently based.
She is currently a physician-researcher and team leader at King's College London, where she heads the Rare Diseases and Neurodevelopmental Disorders Research Group, the RDND Lab. She is also a consultant clinical geneticist at Guy's and St Thomas' NHS Foundation Trust.
Cristina began working on the BCL11A gene during her clinical doctorate at the University of Cambridge and the Wellcome Sanger Institute. Her work led to the definition of the BCL11A-related developmental disorder, also known as Dias-Logan syndrome.
Since then, she has continued to contribute to a better understanding of this pathology, both in her clinical practice and within her research laboratory.
The RDND Lab seeks to understand how genetic mutations can lead to differences in brain development, resulting in intellectual developmental disorders and learning difficulties.
This work includes translational research with patients suffering from neurodevelopmental disorders, as well as basic research using cellular models, including cells from patients, to reproduce and study brain development in the laboratory.
Cristina and her team's overall objective is to create a link between research in human biology and the in-depth study of patient groups, in order to improve knowledge as well as clinical care for patients and families affected by rare diseases.
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