Details of Disease

General Information of Disease (ID: DISG2YOV)

Disease Name Perrault syndrome
Synonyms gonadal dysgenesis, XX type, with deafness; XX gonodal dysgenesis-deafness syndrome; Perrault syndrome
Definition
Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DIS4V9SY: Inherited primary ovarian failure
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DISG2YOV: Perrault syndrome
Disease Identifiers
MONDO ID
MONDO_0017312
MESH ID
C537286
UMLS CUI
C0685838
MedGen ID
151934
Orphanet ID
2855
SNOMED CT ID
93466004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TWNK OTUD091O Supportive Autosomal recessive [1]
CLPP OTEPHG0S Supportive Autosomal recessive [5]
ERAL1 OTSH78HD Supportive Autosomal recessive [6]
HARS2 OTC8X3H9 Supportive Autosomal recessive [7]
SGO2 OTNGJDS8 moderate Genetic Variation [8]
CHMP1B OTP715L8 Strong Genetic Variation [9]
CLDN14 OTS7GKOI Strong Genetic Variation [8]
FOXL2 OTFRQUYL Strong Biomarker [10]
LARS2 OTJS37LE Strong Autosomal recessive [3]
PSMC3IP OT9UB5UO Strong Biomarker [11]
TBC1D24 OTKZUSMD Strong Genetic Variation [12]
HSD17B4 OT8733D7 Definitive Autosomal recessive [3]
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⏷ Show the Full List of 12 DOT(s)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HSD17B4 TTL1WGS Definitive Biomarker [2]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
LARS2 DEP7BTH Strong Autosomal recessive [3]
LARS2 DEP7BTH Strong Genetic Variation [4]
HSD17B4 DEJHG19 Definitive Autosomal recessive [3]
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References

1 Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29.
2 Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.Hear Res. 2017 May;348:87-97. doi: 10.1016/j.heares.2017.02.017. Epub 2017 Mar 3.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4 Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.Gynecol Endocrinol. 2019 Dec;35(12):1037-1039. doi: 10.1080/09513590.2019.1637407. Epub 2019 Jul 5.
5 Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28.
6 A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152.
7 Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4.
8 Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16.
9 First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.J Hum Genet. 2016 Apr;61(4):295-300. doi: 10.1038/jhg.2015.149. Epub 2015 Dec 10.
10 Perrault syndrome: report of four new cases, review and exclusion of candidate genes.Am J Med Genet A. 2008 Mar 1;146A(5):661-4. doi: 10.1002/ajmg.a.32180.
11 Genotype and phenotype heterogeneity in perrault syndrome.J Pediatr Adolesc Gynecol. 2013 Feb;26(1):e25-7. doi: 10.1016/j.jpag.2012.10.008.
12 Unresolved questions regarding human hereditary deafness.Oral Dis. 2017 Jul;23(5):551-558. doi: 10.1111/odi.12516. Epub 2016 Jul 11.