Perrault syndrome (PRLTS) is a rare autosomal recessive disorder leading to pure gonadal dysgenesis in affected females (46,XX) and sensorineural hearing loss (SNHL) or deafness in males.
Perrault Syndrome. In: Pagon RA, Adam MP, Ardinger HH (eds).
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 2010;87:282-288.
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A 2011;108:6543-6548.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet 2013;92:614-620.
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
Mutations in five genes -HSDI7B4, HARS2, CLPP, LARS2, and CI0orf2- have been reported in five subtypes of Perrault syndrome.