What are the genetic changes related to Townes-Brocks Syndrome ?
Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Some mutations in the SALL1 gene lead to the production of an abnormally short version of the SALL1 protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from making any protein. It is unclear how these genetic changes disrupt normal development and cause the birth defects associated with Townes-Brocks syndrome.