Perrault M, Klotz B, Housset E. Deux Cas de syndrome de Turner avec surdi-mutite Dans Une meme fratrie. Bull Mem Soc Med Hop Paris. 1951;16:79–84.

Google Scholar 

Faridi R, Rea A, Fenollar-Ferrer C, O’Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB. New insights into perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet. 2022;141(3):805–19. https://doi.org/10.1007/s00439-021-02319-7.

Article  PubMed  Google Scholar 

Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum Genet. 2007;122:445–50. https://doi.org/10.1007/s00439-007-0418-z.

Article  CAS  PubMed  Google Scholar 

Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet. 2011;130:759–65. https://doi.org/10.1007/s00439-011-1018-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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, University of Washington Center for Mendelian Genomics, 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. 2013;92(4):605–13. https://doi.org/10.1016/j.ajhg.2013.02.013.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bhandari V, Wong KS, Zhou JL, Mabanglo MF, Batey RA, Houry WA. The role of ClpP protease in bacterial pathogenesis and human diseases. ACS Chem Biol. 2018;13(6):1413–25. https://doi.org/10.1021/acschembio.8b00124.

Article  CAS  PubMed  Google Scholar 

Nouri K, Feng Y, Schimmer AD. Mitochondrial ClpP Serine protease-biological function and emerging target for cancer therapy. Cell Death Dis. 2020;11(10):841. https://doi.org/10.1038/s41419-020-03062-z.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bross P, Andresen BS, Knudsen I, Kruse TA, Gregersen N. Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene. FEBS Lett. 1995;377(2):249–52. https://doi.org/10.1016/0014-5793(95)01353-9.

Article  CAS  PubMed  Google Scholar 

Masango MF, Bhandari V, Houry WA. Substrates and interactors of the ClpP protease in the mitochondria. Curr Opin Chem Biol. 2022;66:102078. https://doi.org/10.1016/j.cbpa.2021.07.003.

Article  CAS  Google Scholar 

Szczepanowska K, Maiti P, Kukat A, Hofsetz E, Nolte H, Senft K, Becker C, Ruzzenente B, Hornig-Do HT, Wibom R, Wiesner RJ, Krüger M, Trifunovic A. CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels. EMBO J. 2016;35(23):2566–83. https://doi.org/10.15252/embj.201694253.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Becker C, Kukat A, Szczepanowska K, Hermans S, Senft K, Brandscheid CP, Maiti P, Trifunovic A. CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis. EMBO Rep. 2018;19(5):e45126. https://doi.org/10.15252/embr.201745126.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gispert S, Parganlija D, Klinkenberg M, Dröse S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Büchel F, Adler T, Hrabé de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G. Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, MtDNA and inflammatory factors. Hum Mol Genet. 2013;22(24):4871–87. https://doi.org/10.1093/hmg/ddt338.

Article  CAS  PubMed  Google Scholar 

Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S. An application of NGS for molecular investigations in perrault syndrome: study of 14 families and review of the literature. Hum Mutat. 2016;37(12):1354–62. https://doi.org/10.1002/humu.23120.

Article  CAS  PubMed  Google Scholar 

Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Genomic sequencing highlights the diverse molecular causes of perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and MtDNA maintenance/translation disorders (LARS2, TFAM). Hum Genet. 2020;139(10):1325–43. https://doi.org/10.1007/s00439-020-02176-w.

Article  CAS  PubMed  Google Scholar 

Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Specific MRI abnormalities reveal severe perrault syndrome due to CLPP defects. Front Neurol. 2016;7:203. https://doi.org/10.3389/fneur.2016.00203.

Article  PubMed  PubMed Central  Google Scholar 

Demain LA, Urquhart JE, O’Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O’ Keefe RT, Newman WG. Expanding the genotypic spectrum of perrault syndrome. Clin Genet. 2017;91(2):302–12. https://doi.org/10.1111/cge.12776.

Article  CAS  PubMed  Google Scholar 

Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL, Medical Genome Initiative. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med. 2022;7(1):27. https://doi.org/10.1038/s41525-022-00295-z.

Article  PubMed  PubMed Central  Google Scholar 

Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA, ClinGen. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021;23(11):2208–12. https://doi.org/10.1038/s41436-021-01254-2. Hearing Loss Clinical Domain Working Group.

Article  PubMed  PubMed Central  Google Scholar 

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American college of medical genetics and genomics (ACMG) and the clinical genome resource (ClinGen). Genet Med. 2020;22(2):245–57. https://doi.org/10.1038/s41436-019-0686-8.

Article  PubMed  Google Scholar 

Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of perrault syndrome type-3. J Neurol Sci. 2015;353(1–2):149–54. https://doi.org/10.1016/j.jns.2015.04.038.

Article  CAS  PubMed  Google Scholar 

Joshi SA, Hersch GL, Baker TA, Sauer RT. Communication between ClpX and ClpP during substrate processing and degradation. Nat Struct Mol Biol. 2004;11(5):404–11. https://doi.org/10.1038/nsmb752.

Article  CAS  PubMed  Google Scholar 

Lee ME, Baker TA, Sauer RT. Control of substrate gating and translocation into ClpP by channel residues and ClpX binding. J Mol Biol. 2010;399(5):707–18. https://doi.org/10.1016/j.jmb.2010.04.027.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kang SG, Dimitrova MN, Ortega J, Ginsburg A, Maurizi MR. Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX. J Biol Chem. 2005;280(42):35424–32. https://doi.org/10.1074/jbc.M507240200.

Article  CAS  PubMed  Google Scholar 

Gribun A, Kimber MS, Ching R, Sprangers R, Fiebig KM, Houry WA. The ClpP double ring tetradecameric protease exhibits plastic ring-ring interactions, and the N termini of its subunits form flexible loops that are essential for ClpXP and clpap complex formation. J Biol Chem. 2005;280(16):16185–96. https://doi.org/10.1074/jbc.M414124200.

Article  CAS  PubMed  Google Scholar 

Kim YI, Levchenko I, Fraczkowska K, Woodruff RV, Sauer RT, Baker TA. Molecular determinants of complex formation between Clp/Hsp100 ATPases and the ClpP peptidase. Nat Struct Biol. 2001;8(3):230–3. https://doi.org/10.1038/84967.