Perrault Syndrome

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Xu, R. Perrault Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5290 (accessed on 21 September 2026).

Xu R. Perrault Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5290. Accessed September 21, 2026.

Xu, Rita. "Perrault Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5290 (accessed September 21, 2026).

Xu, R. (2020, December 24). Perrault Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5290

Xu, Rita. "Perrault Syndrome." Encyclopedia. Web. 24 December, 2020.

Perrault Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/perrault-syndrome

Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.

genetic conditions

References

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, WarnerTT; 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 amitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013.
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 neurologicfeatures. Neurology. 2014 Nov 25;83(22):2054-61. doi:10.1212/WNL.0000000000001036.
Newman WG, Friedman TB, Conway GS, Demain LAM. Perrault Syndrome. 2014 Sep 25 [updated 2018 Sep 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK242617/
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 AcadSci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108.
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-tRNAsynthetase, lead to premature ovarian failure and hearing loss in Perraultsyndrome. Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi:10.1016/j.ajhg.2013.03.007.
Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM,Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J HumGenet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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