Doctors wrote a detailed report about one infant girl who was born with a severe developmental and epileptic encephalopathy (DEE). This condition involved frequent seizures starting in the newborn period, profound developmental impairment, and multiple other health problems including heart and eye issues, difficulty swallowing, and poor growth. The goal was to understand the genetic cause of her condition.
Genetic testing revealed a new type of change in her DNA at a location called the FBRSL1 gene. This was a complex duplication, meaning an extra, partially broken copy of the gene was present. Further lab tests confirmed this extra gene copy was active. This is the first time this specific type of genetic change has been linked to this severe disorder.
This report expands what doctors know about disorders related to the FBRSL1 gene. Previously, such a profound and complex condition was not associated with this gene. The findings suggest a specific way the faulty gene might cause problems. However, this is only a report about one patient. The full range of symptoms and genetic changes possible in FBRSL1-related disorders is still unknown. This finding is an important step for genetic researchers and doctors trying to diagnose rare conditions, but it does not immediately change treatment.