FLVCR1 Gene Mutations Linked to Diverse Developmental Disorders

Summary: A groundbreaking study has identified a single gene, FLVCR1, as the potential cause of approximately 30 previously unexplained medical conditions. The research, led by Daniel G. Calame and colleagues, reveals that biallelic variations in FLVCR1, which encodes a protein involved in transporting heme, choline, and ethanolamine, can lead to a spectrum of severe developmental disorders.Key findings include:

• 30 patients from 23 unrelated families were found to have biallelic FLVCR1 variants.
• The affected individuals exhibited a range of symptoms, including profound developmental delay, microcephaly, brain malformations, epilepsy, and spasticity.
• Some patients showed similarities to Diamond-Blackfan anemia, including macrocytic anemia and skeletal malformations.
• The FLVCR1 variants significantly reduced choline and ethanolamine transport and/or disrupted mRNA splicing.
• The study expands our understanding of Mendelian choline and ethanolamine disorders and highlights the importance of considering a wide phenotypic spectrum for known disease genes.

This research not only provides answers for families affected by these rare conditions but also opens new avenues for potential treatments and genetic counseling.

References:

1. Calame, D.G., Wong, J.H., Panda, P., et al. (2024). Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine. DOI: 10.1016/j.gim.2024.101273
2. Caron, C. (2024). 1 gene may explain 30 mysterious medical conditions. Live Science. https://www.livescience.com/health/genetics/1-gene-may-explain-30-mysterious-medical-conditions

Hashtags:#GeneticResearch #FLVCR1 #RareDisease #DevelopmentalDisorders #PrecisionMedicine