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Perrault syndrome

MedGen UID:
151934
Concept ID:
C0685838
Congenital Abnormality; Disease or Syndrome
Synonym: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
SNOMED CT: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (93466004); Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance (93466004); Perrault syndrome (93466004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: TWNK, ERAL1, HARS2, LARS2, CLPP, HSD17B4
 
Monarch Initiative: MONDO:0017312
OMIM®: 233400
OMIM® Phenotypic series: PS233400
Orphanet: ORPHA2855

Disease characteristics

Excerpted from the GeneReview: Perrault Syndrome
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy. [from GeneReviews]
Authors:
William G Newman  |  Thomas B Friedman  |  Gerard S Conway, et. al.   view full author information

Additional description

From MedlinePlus Genetics
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.

Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.

In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time.

Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile).  https://medlineplus.gov/genetics/condition/perrault-syndrome

Recent clinical studies

Etiology

Brodie EJ, Zhan H, Saiyed T, Truscott KN, Dougan DA
Sci Rep 2018 Aug 27;8(1):12862. doi: 10.1038/s41598-018-30311-1. PMID: 30150665Free PMC Article
Kosaki R, Horikawa R, Fujii E, Kosaki K
Am J Med Genet A 2018 Feb;176(2):404-408. Epub 2017 Dec 3 doi: 10.1002/ajmg.a.38552. PMID: 29205794
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W
J Inherit Metab Dis 2015 Jul;38(4):629-40. Epub 2015 Mar 17 doi: 10.1007/s10545-015-9831-y. PMID: 25778941Free PMC Article
Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK
J Pediatr Endocrinol Metab 2015 Sep;28(9-10):1005-7. doi: 10.1515/jpem-2014-0292. PMID: 25741941
Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL
Am J Med Genet 1996 Jun 28;63(4):518-24. doi: 10.1002/(SICI)1096-8628(19960628)63:4<518::AID-AJMG2>3.0.CO;2-K. PMID: 8826428

Diagnosis

Pan Z, Xu H, Tian Y, Liu D, Liu H, Li R, Dou Q, Zuo B, Zhai R, Tang W, Lu W
Mol Genet Genomic Med 2020 Oct;8(10):e1445. Epub 2020 Aug 7 doi: 10.1002/mgg3.1445. PMID: 32767731Free PMC Article
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A
BMC Med Genet 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. PMID: 32423379Free PMC Article
Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti C, Rubegni A, Morani F, Santorelli FM, Bellone E, Mandich P
Ann Hum Genet 2020 Sep;84(5):417-422. Epub 2020 Apr 12 doi: 10.1111/ahg.12384. PMID: 32281099
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
Hum Mutat 2016 Dec;37(12):1354-1362. Epub 2016 Oct 7 doi: 10.1002/humu.23120. PMID: 27650058
Opitz JM
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):387-96. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31420. PMID: 25424868

Prognosis

Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A
Genet Test Mol Biomarkers 2021 Aug;25(8):528-539. doi: 10.1089/gtmb.2021.0092. PMID: 34406847
Oziębło D, Pazik J, Stępniak I, Skarżyński H, Ołdak M
Genes (Basel) 2020 Sep 8;11(9) doi: 10.3390/genes11091060. PMID: 32911714Free PMC Article
Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G, Plewczynski D, Wolak T, Płoski R, Skarżyński H
J Transl Med 2017 Feb 8;15(1):25. doi: 10.1186/s12967-017-1129-4. PMID: 28178980Free PMC Article
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W
J Inherit Metab Dis 2015 Jul;38(4):629-40. Epub 2015 Mar 17 doi: 10.1007/s10545-015-9831-y. PMID: 25778941Free PMC Article
Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC
Am J Hum Genet 2010 Aug 13;87(2):282-8. Epub 2010 Jul 30 doi: 10.1016/j.ajhg.2010.07.007. PMID: 20673864Free PMC Article

Clinical prediction guides

Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT
Eur J Hum Genet 2023 Oct;31(10):1190-1194. Epub 2023 Aug 9 doi: 10.1038/s41431-023-01437-2. PMID: 37558808Free PMC Article
Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A
Genet Test Mol Biomarkers 2021 Aug;25(8):528-539. doi: 10.1089/gtmb.2021.0092. PMID: 34406847
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
Hum Genet 2020 Oct;139(10):1325-1343. Epub 2020 May 12 doi: 10.1007/s00439-020-02176-w. PMID: 32399598
Fekete B, Pentelényi K, Rudas G, Gál A, Grosz Z, Illés A, Idris J, Csukly G, Domonkos A, Molnar MJ
BMC Med Genet 2019 Dec 18;20(1):198. doi: 10.1186/s12881-019-0934-4. PMID: 31852434Free PMC Article
Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G, Plewczynski D, Wolak T, Płoski R, Skarżyński H
J Transl Med 2017 Feb 8;15(1):25. doi: 10.1186/s12967-017-1129-4. PMID: 28178980Free PMC Article

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