anticodon and Charcot-Marie-Tooth-Disease

Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V - allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. We report monozygotic twin girls with onset of weakness in infancy and a previously reported GARS mutation within the anticodon-binding domain. The severity and remarkable similarity in phenotypes of these girls and the reported case suggest that mutations within the anticodon-binding domain are more damaging to aminoacyl tRNA synthetase function than those within other domains of GARS.

Topics: Anticodon; Charcot-Marie-Tooth Disease; Female; Glycine-tRNA Ligase; Humans; Infant; Mutation; Polymerase Chain Reaction; Twins, Monozygotic

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.

Topics: Adult; Aged, 80 and over; Anticodon; Axons; Binding Sites; Charcot-Marie-Tooth Disease; Child; Cohort Studies; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing; Glycine-tRNA Ligase; Humans; Male; Motor Neurons; Muscle, Skeletal; Mutation; Protein Biosynthesis; Protein Structure, Tertiary; Spinal Muscular Atrophies of Childhood; Wallerian Degeneration