Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.
James
P A
PA
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Cader
M Z
MZ
Muntoni
F
F
Childs
A-M
AM
Crow
Y J
YJ
Talbot
K
K
D000328:Adult; D000369:Aged, 80 and over; D000926:Anticodon / Q000235:genetics; D001369:Axons / Q000378:metabolism / Q000473:pathology; D001665:Binding Sites / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006032:Glycine-tRNA Ligase / Q000235:genetics*; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D014176:Protein Biosynthesis / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000503:physiopathology; D014855:Wallerian Degeneration / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
D000926:Anticodon; D006032:Glycine-tRNA Ligase