Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10316025" target="_blank" >RIV/00216208:11130/15:10316025 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/15:10316025
Result on the web
<a href="http://dx.doi.org/10.1093/brain/awv158" target="_blank" >http://dx.doi.org/10.1093/brain/awv158</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/brain/awv158" target="_blank" >10.1093/brain/awv158</a>

Result language
angličtina
Original language name
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Original language description
Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) was identified in a single patient with a late-onset, sensory-predominant peripheral neuropathy; however, the genetic evidence was lacking, making the significance of the finding unclear. Here, we present clinical, genetic, and functional data that implicate HARS mutations in inherited peripheral neuropathies. The associated phenotypic spectrum is broad and encompasses axonal and demyelinating motor and sensory neuropathies, including four young patients presenting with pure motor axonal neuropathy. Genome-wide linkage studies in combination with whole-exome and conventional sequencing revealed fo
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Project
<a href="/en/project/NT14348" target="_blank" >NT14348: New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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