Literature DB >> 23729695

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

Michael Gonzalez1, Heather McLaughlin, Henry Houlden, Min Guo, Liu Yo-Tsen, Marios Hadjivassilious, Fiorella Speziani, Xiang-Lei Yang, Anthony Antonellis, Mary M Reilly, Stephan Züchner.   

Abstract

Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. Here we present data suggesting that MARS is a very rare novel cause of late-onset CMT2. This is supported by strong functional and evolutionary evidence, yet the absence of additional unrelated cases warrant future studies to substantiate this conclusion.

Entities:  

Keywords:  Charcot-Marie-Tooth disease; Exome sequencing; tRNA synthases

Mesh：

Substances：

Year:  2013        PMID： 23729695      PMCID： PMC3796032          DOI： 10.1136/jnnp-2013-305049

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  9 in total

1.  Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Authors:  Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M Vance; Stephan Züchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

2.  Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

Authors:  Anita S D Saporta; Stephanie L Sottile; Lindsey J Miller; Shawna M E Feely; Carly E Siskind; Michael E Shy
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

3.  Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.

Authors:  Weiwei He; Hui-Min Zhang; Yeeting E Chong; Min Guo; Alan G Marshall; Xiang-Lei Yang
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-07       Impact factor: 11.205

4.  Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

Authors:  Anthony Antonellis; Shih-Queen Lee-Lin; Amy Wasterlain; Paul Leo; Martha Quezado; Lev G Goldfarb; Kyungjae Myung; Shawn Burgess; Kenneth H Fischbeck; Eric D Green
Journal:  J Neurosci       Date:  2006-10-11       Impact factor: 6.167

5.  Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.

Authors:  Albena Jordanova; Joy Irobi; Florian P Thomas; Patrick Van Dijck; Kris Meerschaert; Maarten Dewil; Ines Dierick; An Jacobs; Els De Vriendt; Velina Guergueltcheva; Chitharanjan V Rao; Ivailo Tournev; Francisco A A Gondim; Marc D'Hooghe; Veerle Van Gerwen; Patrick Callaerts; Ludo Van Den Bosch; Jean-Pièrre Timmermans; Wim Robberecht; Jan Gettemans; Johan M Thevelein; Peter De Jonghe; Ivo Kremensky; Vincent Timmerman
Journal:  Nat Genet       Date:  2006-01-22       Impact factor: 38.330

6.  Charcot-Marie-Tooth disease.

Authors:  Kinga Szigeti; James R Lupski
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

7.  Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Authors:  Anthony Antonellis; Rachel E Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoit Funalot; Jeffery M Vance; Lev G Goldfarb; Kenneth H Fischbeck; Eric D Green
Journal:  Am J Hum Genet       Date:  2003-04-10       Impact factor: 11.025

8.  A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Authors:  Philippe Latour; Christel Thauvin-Robinet; Chantal Baudelet-Méry; Pierre Soichot; Veronica Cusin; Laurence Faivre; Marie-Claire Locatelli; Martine Mayençon; Annie Sarcey; Emmanuel Broussolle; William Camu; Albert David; Robert Rousson
Journal:  Am J Hum Genet       Date:  2009-12-31       Impact factor: 11.025

9.  Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Authors:  Sinead M Murphy; Matilde Laura; Katherine Fawcett; Amelie Pandraud; Yo-Tsen Liu; Gabrielle L Davidson; Alexander M Rossor; James M Polke; Victoria Castleman; Hadi Manji; Michael P T Lunn; Karen Bull; Gita Ramdharry; Mary Davis; Julian C Blake; Henry Houlden; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-05-10       Impact factor: 10.154
  9 in total
  65 in total

Review 1.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Authors:  Rebecca Meyer-Schuman; Anthony Antonellis
Journal:  Hum Mol Genet       Date:  2017-10-01       Impact factor: 6.150

2.  Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.

Authors:  Yu Sun; Guorui Hu; Jihang Luo; Di Fang; Yongguo Yu; Xiang Wang; Jing Chen; Wenjuan Qiu
Journal:  J Hum Genet       Date:  2017-02-02       Impact factor: 3.172

3.  A novel AARS mutation in a family with dominant myeloneuropathy.

Authors:  William W Motley; Laurie B Griffin; Inès Mademan; Jonathan Baets; Els De Vriendt; Peter De Jonghe; Anthony Antonellis; Albena Jordanova; Steven S Scherer
Journal:  Neurology       Date:  2015-04-22       Impact factor: 9.910

4.  MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Authors:  Jonathan Rips; Rebecca Meyer-Schuman; Oded Breuer; Reuven Tsabari; Avraham Shaag; Shoshana Revel-Vilk; Shimon Reif; Orly Elpeleg; Anthony Antonellis; Tamar Harel
Journal:  Eur J Med Genet       Date:  2018-04-12       Impact factor: 2.708

5.  Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Authors:  Andrea Accogli; Laura Russell; Guillaume Sébire; Jean-Baptiste Rivière; Judith St-Onge; Nassima Addour-Boudrahem; Alexandre Dionne Laporte; Guy A Rouleau; Christine Saint-Martin; Myriam Srour
Journal:  Neurogenetics       Date:  2019-03-28       Impact factor: 2.660

6.  Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Authors:  Michaela Auer-Grumbach; Stefan Toegel; Maria Schabhüttl; Daniela Weinmann; Catharina Chiari; David L H Bennett; Christian Beetz; Dennis Klein; Peter M Andersen; Ilka Böhme; Regina Fink-Puches; Michael Gonzalez; Matthew B Harms; William Motley; Mary M Reilly; Wilfried Renner; Sabine Rudnik-Schöneborn; Beate Schlotter-Weigel; Andreas C Themistocleous; Jochen H Weishaupt; Albert C Ludolph; Thomas Wieland; Feifei Tao; Lisa Abreu; Reinhard Windhager; Manuela Zitzelsberger; Tim M Strom; Thomas Walther; Steven S Scherer; Stephan Züchner; Rudolf Martini; Jan Senderek
Journal:  Am J Hum Genet       Date:  2016-09-01       Impact factor: 11.025

7.  The molecular aetiology of tRNA synthetase depletion: induction of a GCN4 amino acid starvation response despite homeostatic maintenance of charged tRNA levels.

Authors:  Matthew R McFarland; Corina D Keller; Brandon M Childers; Stephen A Adeniyi; Holly Corrigall; Adélaïde Raguin; M Carmen Romano; Ian Stansfield
Journal:  Nucleic Acids Res       Date:  2020-04-06       Impact factor: 16.971

Review 8.  Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

Authors:  Na Wei; Qian Zhang; Xiang-Lei Yang
Journal:  J Biol Chem       Date:  2019-01-14       Impact factor: 5.157

9.  Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Authors:  Alice Hadchouel; Thomas Wieland; Matthias Griese; Enrico Baruffini; Bettina Lorenz-Depiereux; Laurent Enaud; Elisabeth Graf; Jean Christophe Dubus; Sonia Halioui-Louhaichi; Aurore Coulomb; Christophe Delacourt; Gertrud Eckstein; Ralf Zarbock; Thomas Schwarzmayr; François Cartault; Thomas Meitinger; Tiziana Lodi; Jacques de Blic; Tim M Strom
Journal:  Am J Hum Genet       Date:  2015-04-23       Impact factor: 11.025

10.  CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Authors:  Biljana Ermanoska; William W Motley; Ricardo Leitão-Gonçalves; Bob Asselbergh; LaTasha H Lee; Peter De Rijk; Kristel Sleegers; Tinne Ooms; Tanja A Godenschwege; Vincent Timmerman; Kenneth H Fischbeck; Albena Jordanova
Journal:  Neurobiol Dis       Date:  2014-05-05       Impact factor: 5.996
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.