De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

Summary: Imagine a master instruction manual for building a human body. Sometimes, a tiny typo in just one word of this manual can cause big changes. Scientists recently found a "typo" in a gene called FBRSL1 in a child with delays in learning, seizures, and heart problems. To understand why, they studied zebrafish with the exact same gene change and saw the same heart and brain issues! They also looked at lab-grown brain cells and found this gene is super important when the brain is first growing. This discovery proves that FBRSL1 is a key gene for healthy development, giving doctors a new target to help kids with similar rare conditions.