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Perrault syndrome 2(PRLTS2)

MedGen UID:
767019
Concept ID:
C3554105
Disease or Syndrome
Synonym: PRLTS2
 
Gene (location): HARS2 (5q31.3)
 
Monarch Initiative: MONDO:0013972
OMIM®: 614926

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 descriptions

From OMIM
Perrault syndrome-2 (PRLTS2) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by Pierce et al., 2011). For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400).  http://www.omim.org/entry/614926
From MedlinePlus Genetics
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).

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.

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.  https://medlineplus.gov/genetics/condition/perrault-syndrome

Clinical features

From HPO
Amenorrhea
MedGen UID:
8016
Concept ID:
C0002453
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Streak ovary
MedGen UID:
78597
Concept ID:
C0266371
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Recent clinical studies

Etiology

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
Öcal G, Berberoğlu M, Sıklar Z, Aycan Z, Hacıhamdioglu B, Savas Erdeve Ş, Çamtosun E, Kocaay P, Ruhi HI, Kılıç BG, Tukun A
J Pediatr Adolesc Gynecol 2015 Feb;28(1):6-11. Epub 2014 Nov 12 doi: 10.1016/j.jpag.2014.01.106. PMID: 25444050

Diagnosis

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
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
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
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
Neurology 2014 Nov 25;83(22):2054-61. Epub 2014 Oct 29 doi: 10.1212/WNL.0000000000001036. PMID: 25355836Free PMC Article
Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y
J Pediatr Adolesc Gynecol 2013 Feb;26(1):e25-7. doi: 10.1016/j.jpag.2012.10.008. PMID: 23332201

Prognosis

Kapil I, Anand R, Padhi P
BMJ Case Rep 2024 Mar 29;17(3) doi: 10.1136/bcr-2023-258204. PMID: 38553020Free 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

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

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