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

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 11, 2013, Pages 1247-1249

  Gonzalez, Michael ^a   McLaughlin, Heather ^b   Houlden, Henry ^c   Guo, Min ^d   Liu, Yo Tsen ^c   Hadjivassilious, Marios ^e   Speziani, Fiorella ^a   Yang, Xiang Lei ^f   Antonellis, Anthony ^b   Reilly, Mary M ^c   Züchner, Stephan ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d SCRIPPS RESEARCH INSTITUTE   (United States)

^e ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^f SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; METHIONINE TRANSFER RNA LIGASE;

AIFM1 GENE; ARTICLE; EXOME; GENE; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LATE ONSET CHARCOT MARIE TOOTH; LIMB WEAKNESS; MARS GENE; MUSCLE ATROPHY; PDK3 GENE; PERONEUS NERVE PARALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PRPS1 GENE;

EID: 84885586767     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-305049     Document Type: Article

References (9)

1. Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33.
2. Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012;83:706-10.
3. Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-9. (Pubitemid 36530017)
4. Jordanova A, Irobi J, Thomas FP, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006;38:197-202. (Pubitemid 43177233)
5. Latour P, Thauvin-Robinet C, Baudelet-Mery C, et al. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2010;86:77-82.
6. McLaughlin HM, Sakaguchi R, Liu C, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010;87:560-6.
7. He W, Zhang HM, Chong YE, et al. Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening. Proc Natl Acad Sci U S A 2011;108:12307-12.
8. Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet 2009;17:703-10.
9. Antonellis A, Lee-Lin SQ, Wasterlain A, et al. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 2006;26:10397-406. (Pubitemid 44564590) Stroke Stroke