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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R, Rea A, Fenollar-Ferrer C, O'Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB. Faridi R, et al. Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2. Hum Genet. 2022. PMID: 34338890 Free PMC article. Review.
Here, we review the molecular genetics and clinical phenotype of Perrault syndrome and focus on supporting evidence for the eight genes (CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, RMND1, TWNK) associated with Perrault syndrome. ...Some unanswered quest …
Here, we review the molecular genetics and clinical phenotype of Perrault syndrome and focus on supporting evidence for the ei …
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A. Carminho-Rodrigues MT, et al. BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. BMC Med Genet. 2020. PMID: 32423379 Free PMC article. Review.
BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. ...To date, 19 variants have been reported in 18 individuals with LARS2-Pe …
BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearin …
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. Lerat J, et al. Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Hum Mutat. 2016. PMID: 27650058 Review.
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. ...
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. ...
The Perrault syndrome: clinical report and review.
Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. Nishi Y, et al. Am J Med Genet. 1988 Nov;31(3):623-9. doi: 10.1002/ajmg.1320310317. Am J Med Genet. 1988. PMID: 3067578 Review.
We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. ...Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysgenesis and deafne …
We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensori …
Unresolved questions regarding human hereditary deafness.
Rehman AU, Friedman TB, Griffith AJ. Rehman AU, et al. Oral Dis. 2017 Jul;23(5):551-558. doi: 10.1111/odi.12516. Epub 2016 Jul 11. Oral Dis. 2017. PMID: 27259978 Free PMC article. Review.
The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive cli …
The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Per …
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.
Opitz JM. Opitz JM. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):387-96. doi: 10.1002/ajmg.c.31420. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424868 Review.
The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transforming events in human genetics. The Perrault syndrome evaluated in two families in Montana and one in Sicily for familial deaf …
The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transfo …
The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.
Auburger G, Key J, Gispert S. Auburger G, et al. Cells. 2022 Aug 2;11(15):2370. doi: 10.3390/cells11152370. Cells. 2022. PMID: 35954215 Free PMC article. Review.
CLPB preferentially attaches to mitochondrial RNA granules and translation initiation components; CLPP is enriched with them all and associates with release/recycling factors. Mutations in CLPP cause Perrault syndrome, with phenotypes similar to defects in mtDNA/mtR …
CLPB preferentially attaches to mitochondrial RNA granules and translation initiation components; CLPP is enriched with them all and associa …
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. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrome in a subset of disorders....
They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrom …
Neurologic anomalies of Perrault syndrome.
Gottschalk ME, Coker SB, Fox LA. Gottschalk ME, et al. Am J Med Genet. 1996 Nov 11;65(4):274-6. doi: 10.1002/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8923934 Review.
A CT scan showed cerebellar hypoplasia. The cardinal manifestations of Perrault syndrome in females are neurosensory hearing loss and ovarian dysgenesis. Other anomalies, including neurologic and skeletal, have been reported in other individuals with Perrault …
A CT scan showed cerebellar hypoplasia. The cardinal manifestations of Perrault syndrome in females are neurosensory hearing l …
The Role of ClpP Protease in Bacterial Pathogenesis and Human Diseases.
Bhandari V, Wong KS, Zhou JL, Mabanglo MF, Batey RA, Houry WA. Bhandari V, et al. ACS Chem Biol. 2018 Jun 15;13(6):1413-1425. doi: 10.1021/acschembio.8b00124. Epub 2018 Jun 1. ACS Chem Biol. 2018. PMID: 29775273 Review.
More recently, ClpP has been found to be involved in various forms of carcinomas and in Perrault syndrome, which is an inherited condition characterized by hearing loss in males and females and by ovarian abnormalities in females. ...
More recently, ClpP has been found to be involved in various forms of carcinomas and in Perrault syndrome, which is an inherit …
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