Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
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- Record sourced from PubMed, PMID 23729695.
- Also identified by DOI 10.1136/jnnp-2013-305049 and PMC identifier 3796032.
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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.
Medical subject headings
- Charcot-Marie-Tooth Disease
- Exome
- Genetic Variation
- Methionine-tRNA Ligase
- Sequence Analysis, DNA