Bi-allelic missense variants in human GPN2 result in Perrault syndrome

Perrault syndrome (MIM: 233400, PRLTS1) is a rare autosomal recessive condition characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency (POI) in 46,XX karyotype females.1 Neurological features, including learning disability, developmental delay, ataxia, and leukodystrophy, also occur in some affected individuals. PRLTS1 is genetically heterogeneous, with bi-allelic variants in 13 genes definitively associated with PRLTS1.2 Most PRLTS1-associated genes encode proteins important for mitochondrial protein translation or peroxisomal function1; nevertheless, many individuals with PRLTS1 remain without a confirmed genetic diagnosis.