Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM

Perrault syndrome: evidence for progressive nervous system involvement.

Am J Med Genet A 128A:246-9 (2004)
DOI:10.1002/ajmg.a.20616

Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Proc Natl Acad Sci U S A 108:6543-8 (2011)
DOI:10.1073/pnas.1103471108

Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Am J Hum Genet 92:605-13 (2013)
DOI:10.1016/j.ajhg.2013.02.013

Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Am J Hum Genet 92:614-20 (2013)
DOI:10.1016/j.ajhg.2013.03.007

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Neurology 83:2054-61 (2014)
DOI:10.1212/WNL.0000000000001036

Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Hum Mol Genet 26:2541-2550 (2017)
DOI:10.1093/hmg/ddx152

Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Berges M, Glasgow RIC, Thompson K, Olahova M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H, Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Am J Hum Genet 112:59-74 (2025)
DOI:10.1016/j.ajhg.2024.11.007