A New Gene Change Found in Two Siblings With Brain Damage
Original title: Novel Homozygous LAMC3 Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization.
How far along is this research?
- Lab cells
- Animals
- Review
- Tested in people
This was tested in people. That is the most reliable kind of research we share.
This was a report on two siblings, not a test of any treatment.
The short version
Doctors found a new gene change in two teens who had serious brain problems.
What was studied. Doctors studied two teenage siblings from one Turkish family. They ran gene tests and used computer models of the protein.
What they found. Both siblings had the same new change in a gene called LAMC3. The 17-year-old sister had a slow growing brain tumor removed, then had seizures. The 15-year-old brother had wide damage in the white matter of his brain.
What this means, and what it doesn't
What it could mean: This gene may explain white matter brain damage in some families. Doctors may add it to gene tests, especially when parents are related. It does not change any treatment today.
What it doesn't mean: This is not a treatment, and it is not a cure. It is a report on two siblings in one family. The brain tumor was seen in just one of them, so the link is not proven. The computer work is only an idea for others to test. This is far from the care you get at the clinic.
Source: PubMed, September 5, 2026 · Read the original
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