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In a breakthrough discovery, an international team of researchers has provided genetic diagnoses for 30 individuals who have struggled with undiagnosed, complex medical conditions for years. The team, led by scientists from Baylor College of Medicine, the National University of Singapore, and collaborators worldwide, published their findings in the journal Genetics in Medicine.
The investigation began with a single patient who suffered from an unusual mix of severe developmental conditions, epilepsy, and complete insensitivity to pain—a combination so rare that despite numerous tests, experts in genetics and neurology could not identify a clear cause. Dr. Daniel Calame, an instructor of pediatric neurology and developmental neurosciences at Baylor, led the team in re-examining the patient’s genetic data. Their search ultimately pointed to an unexpected culprit: a gene called FLVCR1.
The FLVCR1 gene is primarily associated with producing red blood cells and aiding in the cellular transport of choline and ethanolamine, essential precursors for cell membrane integrity. Previous studies in mice revealed that disrupting FLVCR1 function was lethal during early development, with embryonic malformations in the head and limbs, as well as red blood cell deficiencies—traits similar to a rare human condition called Diamond-Blackfan anemia (DBA). However, DBA had not been directly linked to the FLVCR1 gene in human cases, and other genes were previously thought to cause this condition.
In this study, the researchers identified 30 patients from 23 unrelated families who carried rare mutations in the FLVCR1 gene. Surprisingly, the affected individuals exhibited a broad range of developmental and neurological disorders. While some presented with severe multiorgan developmental issues similar to DBA, others showed symptoms of adult-onset neurodegeneration. This diversity in presentation underscored the gene’s unexpected role in a wide spectrum of medical conditions.
“This gene had never been definitively connected to such a broad range of developmental issues in humans before,” said Dr. Calame. “Our findings reveal a spectrum of FLVCR1-related conditions, providing an answer to a genetic mystery that affected not only our initial patient but many others worldwide.”
The study’s revelations may also have therapeutic implications. Since FLVCR1 is involved in choline and ethanolamine transport, supplementing these substances could hold potential as a treatment option for some FLVCR1-related disorders. “We’re eager to explore whether choline or ethanolamine supplementation could benefit patients with FLVCR1 mutations,” Calame explained. “For the 30 patients we identified, some of whom had been waiting years for answers, it’s gratifying to finally provide a genetic diagnosis that could lead to targeted care.”
This discovery represents a major advance in genetic diagnostics, potentially paving the way for new treatments while giving hope to families who have long sought answers. The researchers plan to continue studying FLVCR1’s role in human development and its therapeutic possibilities, hoping that this one gene may be the key to solving more genetic mysteries in the future.
