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Perrault syndrome 4(PRLTS4)

MedGen UID:
815435
Concept ID:
C3809105
Disease or Syndrome
Synonym: PRLTS4
 
Gene (location): LARS2 (3p21.31)
 
Monarch Initiative: MONDO:0014126
OMIM®: 615300

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-4 (PRLTS4) is an autosomal recessive disorder primarily characterized by early-onset sensorineural hearing loss in both males and females, and premature ovarian failure (POF) in females. Affected individuals may also develop neurologic involvement, including developmental delay or learning difficulties in childhood or onset of progressive movement abnormalities, such as spasticity, in adulthood. Brain imaging may show progressive leukodystrophy (summary by Pierce et al., 2013, Kosaki et al., 2018 and van der Knaap et al., 2019). For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400).  http://www.omim.org/entry/615300
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.

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).

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

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Secondary amenorrhea
MedGen UID:
115919
Concept ID:
C0232940
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Hypoplasia of the ovary
MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
Developmental hypoplasia of the ovary.
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Perineural cyst
MedGen UID:
105457
Concept ID:
C0520720
Disease or Syndrome
A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Decreased serum estradiol
MedGen UID:
69129
Concept ID:
C0241011
Finding
A reduction below normal concentration of estradiol in the circulation.
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Recent clinical studies

Prognosis

Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S
Eur J Hum Genet 2023 Apr;31(4):453-460. Epub 2022 Dec 1 doi: 10.1038/s41431-022-01252-1. PMID: 36450801Free 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

Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S
Eur J Hum Genet 2023 Apr;31(4):453-460. Epub 2022 Dec 1 doi: 10.1038/s41431-022-01252-1. PMID: 36450801Free 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
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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