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Literature DB >> 18241061

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

Sandrine Marlin¹, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Cyril Goizet, Thierry Billette de Villemeur, Sylvie Cabrol, Muriel Houang, Lucien Moatti, Delphine Feldmann, Françoise Denoyelle.

Abstract

We report on two sporadic and two familial new cases with sensorineural hearing impairment and ovarian dysgenesis which are the cardinal signs of Perrault syndrome in females. Only one of them has a nervous system defect. We reviewed all the published cases of Perrault syndrome in order to define the clinical variability and to evaluate the frequency of the neurological anomalies in this clinical entity. Moreover we excluded GJB2, POLG, and FOXL2 as candidate genes in Perrault syndrome. (c) 2008 Wiley-Liss, Inc.

Entities: Disease Gene

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Year: 2008 PMID： 18241061 DOI： 10.1002/ajmg.a.32180

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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Cited

10 in total

1. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Authors: Sarah B Pierce; Karen M Chisholm; Eric D Lynch; Ming K Lee; Tom Walsh; John M Opitz; Weiqing Li; Rachel E Klevit; Mary-Claire King
Journal: Proc Natl Acad Sci U S A Date: 2011-04-04 Impact factor: 11.205

2. Perrault syndrome - a rare case report.

Authors: Geethalakshmi Sampathkumar; Narendrakumar Veerasigamani
Journal: J Clin Diagn Res Date: 2015-03-01

3. Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Authors: Jiandong Shen; Dianyun Qu; Yan Gao; Fangxi Sun; Jiazi Xie; Xueping Sun; Daowu Wang; Xiang Ma; Yugui Cui; Jiayin Liu; Feiyang Diao
Journal: J Assist Reprod Genet Date: 2021-02-04 Impact factor: 3.412

Review 4. The Diseased Mitoribosome.

Authors: Alberto Ferrari; Samuel Del'Olio; Antoni Barrientos
Journal: FEBS Lett Date: 2020-12-22 Impact factor: 4.124

5. A rare cause for primary amenorrhoea.

Authors: Kaderthambi Hajamohideen Noorul Ameen; Rakesh Pinninti
Journal: J Hum Reprod Sci Date: 2012-05

6. Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.

Authors: E Sarikaya; Cg Ensert; Hc Gulerman
Journal: Balkan J Med Genet Date: 2011-12 Impact factor: 0.519

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

1. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

2. Perrault syndrome - a rare case report.

3. Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Review 4. The Diseased Mitoribosome.

5. A rare cause for primary amenorrhoea.

6. Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.

7. A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

8. Perrault syndrome type 3 caused by diverse molecular defects in CLPP.

9. Endocrine Manifestations and New Developments in Mitochondrial Disease.

10. A rare cause for primary amenorrhea: Sporadic perrault syndrome.