What gene is mutated in diastrophic dysplasia?

What gene is mutated in diastrophic dysplasia?

The specific gene mutation that causes DTD occurs in the SLC26A2 gene. It’s also called DTDST (diastrophic dysplasia sulfate transporter). The gene is responsible for making a protein important in making cartilage, as well as changing cartilage to bone.

A person can be a carrier of the genetic mutation but not have the disorder. If a baby’s mother and father are both carriers, a baby has a 25% chance of developing the disorder.