title: Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
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.
authors.affiliation: Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, , Miami, Florida, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Gonzalez
authors.forename: Heather
authors.initials: H
authors.lastname: McLaughlin
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Min
authors.initials: M
authors.lastname: Guo
authors.forename: Liu
authors.initials: L
authors.lastname: Yo-Tsen
authors.forename: Marios
authors.initials: M
authors.lastname: Hadjivassilious
authors.forename: Fiorella
authors.initials: F
authors.lastname: Speziani
authors.forename: Xiang-Lei
authors.initials: XL
authors.lastname: Yang
authors.forename: Anthony
authors.initials: A
authors.lastname: Antonellis
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
mesh_terms: D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008718:Methionine-tRNA Ligase / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations
chemical_list: D008718:Methionine-tRNA Ligase
keywords: Charcot-Marie-Tooth disease; Exome sequencing; tRNA synthases