Description:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
GLYCYL-TRNA SYNTHETASE; GARS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GARS |
| Chromosomal Location |
7p15 |
| Allelic Variant 1 |
600287.0001; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D |
| Identified Mutation |
GLY240ARG; In 2 families with CMT2D (601472) first reported by Ionasescu et al. (1996) and Pericak-Vance et al. (1997), Antonellis et al. (2003) identified a 1236G-C change in the GARS gene, resulting in a gly240-to-arg (G240R) substitution. The mutation was absent in 368 unrelated chromosomes. |
| Remarks |
Clinically affected; bilateral foot drop; sensation to cold is fine; marked distal weakness; proximal leg strength is fine; EMG at age 49 showed evidence for a sensorimotor axonal polyneuropathy; EMG at age 53 was compatible with a neuropathy affecting both motor and sensory axons, but motor fibers are affected to a far greater extent and the findings were not significantly different from those seen 4 years earlier; donor subject carries a G>C change at nucleotide 1236 (1236G>C) in the glycyl tRNA synthetase gene (GARS) which results in a glycine to arginine amino acid change at position 240 [Gly240Arg (G240R)]. |
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