Uncovering a Rare Bone Disorder: Iranian Researchers Find New Genetic Clue

In Iran, scientists recently discovered a new genetic change in people with a rare bone condition. This condition, called osteogenesis imperfecta (OI), makes bones very weak and easy to break. Usually, this happens because of problems in two specific genes, COL1A1 and COL1A2. However, in some cases, it's caused by a different gene called FKBP10. This is the first time researchers in Iran have studied this gene in a large group of people with OI.The team used a special technique called whole-exome sequencing. This helps them look at all the genes in a person's DNA that might be involved in protein production. By doing this, they found a new change in the FKBP10 gene. This change is linked to a severe type of OI, known as type XI. Unlike other types, this one is passed down in a way that both parents must carry the gene for a child to be affected. This discovery is important because it helps scientists understand more about this rare condition. It also shows how genetic research can uncover new information about diseases. However, it's just one piece of the puzzle. There's still much more to learn about OI and how to treat it.