Scientists from the Baylor College of Medicine, the National University of Singapore, and several other institutions have conducted a genetic diagnosis of 30 patients with unknown diseases.

Their research, the findings of which were published in the journal Genetics in Medicine, have provided an opportunity to reveal the role of the FLVCR1 gene in the occurrence of rare diseases.

According to the study, scientists concluded that rare variants of the FLVCR1 gene are associated with serious disorders—in particular, developmental defects, epilepsy, and insensitivity to pain.

The FLVCR1 protein encoded by this gene is involved in the formation of cell membranes and the transport of cells—in particular, choline and ethanolamine that are necessary for the normal functioning of the nervous system.

The scientists conducted an in-depth analysis of the aforesaid patients' genetic and clinical data. As part of their project, the scientists identified 30 people from different families who had rare variants of the FLVCR1 gene.

Additional laboratory experiments were conducted to assess the effect of these variants on the transport of important substances in cells.

As a result, the researchers were able to identify 22 new variants of the FLVCR1 gene that had not been previously described in the scientific literature. The analysis showed that different gene mutations can cause a wide range of symptoms—from severe developmental disorders and epilepsy to anemia and bone defects. These features overlap with defects found in animal models, which enables linking the FLVCR1 gene to a condition similar to Diamond-Blackfan anemia.

Data from research at the cellular level have shown that FLVCR1 gene mutations reduce the transport of choline and ethanolamine, which negatively affects the development of the nervous system and other vital functions. This confirms the importance of these molecules for normal neural development and the functioning of the central and peripheral nervous systems, while their deficiency can trigger neurodegenerative processes.

The scientists argue that identifying the mechanisms involved in FLVCR1 could help develop new approaches—particularly, the use of choline supplements to treat patients with similar mutations.