2022
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis
Researchers aimed to identify rare genetic variations associated with adolescent idiopathic scoliosis (AIS) by examining the DNA of 60 CARTaGENE participants (healthy controls) and individuals from other sources. They found that the FAT3 gene, while not statistically significant on its own, showed an excess of rare genetic changes in AIS patients, and further investigations revealed specific variants within FAT3 that were more common in severe AIS cases compared to milder cases and healthy individuals, suggesting that FAT3 may play a role in the development of AIS.