PRORP

Molecular Characteristics for Families

Perrault syndrome due to PRORP variants 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.
Because of the way this condition is inherited it is more common in populations where marriage within families (consanguinity) is more common.