Similar articles for PMID: 23541340

Year	Number of Results
1993	3
1994	1
1995	2
1997	1
2001	3
2002	2
2005	1
2007	3
2008	2
2009	1
2010	2
2011	5
2012	3
2013	7
2014	4
2015	13
2016	15
2017	9
2018	10
2019	13
2020	16
2021	8
2022	9
2023	3
2024	0

1

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.

2

Expanding the genotypic spectrum of Perrault syndrome.

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254

3

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E. Pierce SB, et al. Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541342 Free PMC article.

4

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Soldà G, Caccia S, Robusto M, Chiereghin C, Castorina P, Ambrosetti U, Duga S, Asselta R. Soldà G, et al. J Hum Genet. 2016 Apr;61(4):295-300. doi: 10.1038/jhg.2015.149. Epub 2015 Dec 10. J Hum Genet. 2016. PMID: 26657938 Free PMC article.

5

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.

6

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. Ahmed S, et al. J Neurol Sci. 2015;353(1-2):149-54. doi: 10.1016/j.jns.2015.04.038. Epub 2015 May 1. J Neurol Sci. 2015. PMID: 25956234

7

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

Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Pierce SB, et al. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4. Proc Natl Acad Sci U S A. 2011. PMID: 21464306 Free PMC article.

8

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I. Domínguez-Ruiz M, et al. J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x. J Transl Med. 2019. PMID: 31455392 Free PMC article.

9

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598

10

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

Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H. Dursun F, et al. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):472-477. doi: 10.4274/jcrpe.2717. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27087618 Free PMC article.

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