Mutations in human CLPP cause Perrault syndrome type 3 (PRLTS3), an autosomal recessive disorder characterized by complete infertility due to female primary ovarian insufficiency and male azoospermia after meiotic arrest at diplotene, with subsequent sensorineural deafness, followed by insidious neurodegeneration manifesting as ataxia, leukodystrophy, and neuropathy [16,17]. This evidence concerns the gene CLPP and Perrault syndrome 3.