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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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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.
See: Feature record | Search on this feature
Uterine hypoplasia
MedGen UID:
120575
•Concept ID:
C0266399
•
Congenital Abnormality
Underdevelopment of the uterus.
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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).
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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.
See: Feature record | Search on this feature
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
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.
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Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease.
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
Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
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
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
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
Spectrum of combined respiratory chain defects.
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 review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.
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

Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
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
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
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
Spectrum of combined respiratory chain defects.
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
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.
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
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
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

Spectrum of combined respiratory chain defects.
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

Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
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
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
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
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
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
Perrault syndrome: evidence for progressive nervous system involvement.
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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