A genetic diagnosis
The diagnosis of Dias-Logan syndrome is confirmed by genetic testing that identifies a pathogenic or likely pathogenic variant in the BCL11A gene.
Depending on the situation, the diagnosis may be established through a chromosomal analysis, a gene panel for neurodevelopmental disorders, or exome sequencing.
Most reported cases are due to a de novo variant, meaning that the variant is not detected in the parents during genetic testing. More rarely, familial inheritance may occur.
After the diagnosis
The interpretation of the genetic result and, when indicated, testing of the parents are carried out in collaboration with a medical genetics team.
Sources :
• GeneReviews® – BCL11A-Related Intellectual Disability
• Peron A. et al., BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations, European Journal of Human Genetics, 2025.