Perrault syndrome is a rare autosomal recessive disorder due to biallelic variants in the PRORP gene. Variants in at least eight genes have been associated with Perrault syndrome.
Affected individuals have variable clinical features. It is sex limited in that both males and females have bilateral sensorineural hearing loss, whereas as only females have ovarian insufficiency. There is inadequate data on the effects on male fertility. Variable neurological features are found in some individuals with Perrault syndrome due to PRORP variants – these likely relate to white matter brain changes and include epilepsy, learning disability and behavioral changes.
In one consanguineous affected family white matter brain changes were present in the absence of hearing loss or ovarian dysfunction, illustrating the clinical variability.
A more severe presentation is found in some individuals with more deleterious PRORP variants. This childhood condition is characterized by metabolic disturbance (lactic acidosis), developmental delay and hearing loss and is comparable to the presentation in some children with deleterious variants in other Perrault syndrome associated genes.