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Perrault syndrome 6(PRLTS6)

MedGen UID:: 1391447
•Concept ID:: C4479656
•: Disease or Syndrome

Synonym:	PRLTS6

Gene (location): Gene(s) directly associated with this condition or phenotype.	ERAL1 (17q11.2)

Monarch Initiative:	MONDO:0033047
OMIM®:	617565

Definition

Perrault syndrome-6 (PRLTS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by Chatzispyrou et al., 2017). [from OMIM]

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 insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.

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Irregular menstruation

MedGen UID:: 56379
•Concept ID:: C0156404
•: Finding

Abnormally high variation in the amount of time between periods.

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Primary amenorrhea

MedGen UID:: 115918
•Concept ID:: C0232939
•: Disease or Syndrome

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.

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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.

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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.

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Uterine hypoplasia

MedGen UID:: 120575
•Concept ID:: C0266399
•: Congenital Abnormality

Underdevelopment of the uterus.

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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.

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Abnormality of the genitourinary system
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPerrault syndrome
- CROGVPerrault syndrome 1
- CROGVPerrault syndrome 2
- CROGVPerrault syndrome 3
- CROGVPerrault syndrome 4
- CROGVPerrault syndrome 5
- CROGVPerrault syndrome 6

Female infertility due to gonadal dysgenesis
- Perrault syndrome
  - Perrault syndrome 6

Recent clinical studies

Etiology

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

See all (1)

Diagnosis

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Tufatulin GS, Garbaruk ES, Lalayants MR, Markova TG, Mefodovskaya EK, Koroleva IV, Ryzhkova OP, Orlova MD, Shatokhina OL, Sugarova SB, Levin SV
J Int Adv Otol 2025 Jan 27;21(1):1-6. doi: 10.5152/iao.2025.241648. PMID: 39936838 Free PMC Article

Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.

Shimanuki MN, Hosoya M, Nishiyama T, Wakabayashi T, Ueno M, Ozawa H, Mutai H, Nara K, Matsunaga T, Oishi N
Auris Nasus Larynx 2024 Dec;51(6):933-939. Epub 2024 Sep 27 doi: 10.1016/j.anl.2024.09.005. PMID: 39340975

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

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

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

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

See all (5)