Researchers have made a groundbreaking discovery by identifying a rare gene mutation that causes a complex and undiagnosed condition in 30 patients worldwide. The study, published in Genetics in Medicine, provides a genetic diagnosis for individuals with severe developmental disorders, epilepsy, and sensory problems.
The breakthrough came when an international team of researchers analyzed the genetic data of a patient with an uncommon combination of problems. They identified the FLVCR1 gene as the culprit behind the condition and found that mutations in this gene were associated with a range of symptoms, including anemia, bone malformations, and premature death.
The researchers discovered 22 new gene variants linked to FLVCR1 and found that these variants significantly reduced choline and ethanolamine transport in cells. They propose that disease severity depends on the residual transport activity of the FLVCR1 variants a patient carries.
The study highlights the importance of approaching diagnosis with a wide perspective, incorporating model organism data into personalized genome analysis for rare diseases. The researchers hope to develop therapeutic strategies based on choline or ethanolamine supplementation for patients with FLVCR1-related diseases.
For these 30 patients who had been undiagnosed for years, the study provides an explanation for their condition and offers new hope for treatment and management of their symptoms.
Source: https://medicalxpress.com/news/2024-11-gene-patients-condition-unexplained-years.html