Perrault syndrome is an inherited condition where an affected individual will have two altered copies of the responsible gene. Most affected individuals will have inherited an altered copy from each parent. Parents are clinically unaffected but are carriers for the condition and will have a 1 in 4 risk of having other affected children.
The changes in the HARS2 gene that result in Perrault syndrome often result in a change in an amino acid in the HARS2 protein that means that it does not function as well as it should do.
HARS2