KEGG   DISEASE: Perrault syndromeHelp
Entry
H02095                      Disease                                

Name
Perrault syndrome
Description
Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in different genes, mostly related to mitochondrial proteostasis.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02095  Perrault syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02095  Perrault syndrome
BRITE hierarchy
Pathway
hsa00970 Aminoacyl-tRNA biosynthesis   
hsa00120 Primary bile acid biosynthesis   
Gene
(PRLTS1) HSD17B4 [HSA:3295] [KO:K12405]
(PRLTS2) HARS2 [HSA:23438] [KO:K01892]
(PRLTS3) CLPP [HSA:8192] [KO:K01358]
(PRLTS4) LARS2 [HSA:23395] [KO:K01869]
(PRLTS5) TWNK [HSA:56652] [KO:K17680]
(PRLTS6) ERAL1 [HSA:26284] [KO:K03595]
Other DBs
ICD-11: LD2H.Y
ICD-10: Q87.8
MeSH: C537286
OMIM: 233400 614926 614129 615300 616138 617565
Reference
  Authors
Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM
  Title
Perrault syndrome: evidence for progressive nervous system involvement.
  Journal
Am J Med Genet A 128A:246-9 (2004)
DOI:10.1002/ajmg.a.20616
Reference
  Authors
Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC
  Title
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
  Journal
Proc Natl Acad Sci U S A 108:6543-8 (2011)
DOI:10.1073/pnas.1103471108
Reference
  Authors
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
  Title
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
  Journal
Am J Hum Genet 92:605-13 (2013)
DOI:10.1016/j.ajhg.2013.02.013
Reference
  Authors
Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E
  Title
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
  Journal
Am J Hum Genet 92:614-20 (2013)
DOI:10.1016/j.ajhg.2013.03.007
Reference
  Authors
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
  Title
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
  Journal
Neurology 83:2054-61 (2014)
DOI:10.1212/WNL.0000000000001036
Reference
  Authors
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
  Title
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
  Journal
Hum Mol Genet 26:2541-2550 (2017)
DOI:10.1093/hmg/ddx152

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