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Perrault syndrome 3(PRLTS3)

MedGen UID:
814744
Concept ID:
C3808414
Disease or Syndrome
Synonym: PRLTS3
 
Gene (location): CLPP (19p13.3)
 
Monarch Initiative: MONDO:0013588
OMIM®: 614129

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 OMIM
Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013). For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400).  http://www.omim.org/entry/614129

Clinical features

From HPO
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
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.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Key J, Maletzko A, Kohli A, Gispert S, Torres-Odio S, Wittig I, Heidler J, Bárcena C, López-Otín C, Lei Y, West AP, Münch C, Auburger G
Neurogenetics 2020 Jul;21(3):187-203. Epub 2020 Apr 28 doi: 10.1007/s10048-020-00609-2. PMID: 32342250Free PMC Article
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
Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H
J Clin Res Pediatr Endocrinol 2016 Dec 1;8(4):472-477. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2717. PMID: 27087618Free 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
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

Kume K, Morino H, Miyamoto R, Matsuda Y, Ohsawa R, Kanaya Y, Tada Y, Kurashige T, Kawakami H
BMC Med Genet 2020 Mar 31;21(1):68. doi: 10.1186/s12881-020-01002-4. PMID: 32234020Free PMC Article
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
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
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
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

Prognosis

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

Clinical prediction guides

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
Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H
J Clin Res Pediatr Endocrinol 2016 Dec 1;8(4):472-477. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2717. PMID: 27087618Free PMC Article
Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY
J Neurol Sci 2015;353(1-2):149-54. Epub 2015 May 1 doi: 10.1016/j.jns.2015.04.038. PMID: 25956234
Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM
Am J Med Genet A 2004 Jul 30;128A(3):246-9. doi: 10.1002/ajmg.a.20616. PMID: 15216544

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