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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-9-11
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pubmed:abstractText |
Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe infantile encephalopathy associated with pontocerebellar hypoplasia and multiple mitochondrial respiratory-chain defects. This resulted in the identification of an intronic mutation in RARS2, the gene encoding mitochondrial arginine-transfer RNA (tRNA) synthetase. The mutation was associated with the production of an abnormally short RARS2 transcript and a marked reduction of the mitochondrial tRNA(Arg) transcript in the patients' fibroblasts. We speculate that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-10401692,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-11121736,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-11175788,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-11377812,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-12416306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-12765840,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-12824367,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-15108122,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-15286228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-15505824,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-15537906,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-15779907,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-16470708,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-16642444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-17013393,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-17033963,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-17160893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-17384640,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-1761566,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17847012-7607232
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
81
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
857-62
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17847012-Arginine-tRNA Ligase,
pubmed-meshheading:17847012-Base Sequence,
pubmed-meshheading:17847012-Cerebellum,
pubmed-meshheading:17847012-Child, Preschool,
pubmed-meshheading:17847012-Chromosomes, Human, Pair 6,
pubmed-meshheading:17847012-Consanguinity,
pubmed-meshheading:17847012-DNA, Complementary,
pubmed-meshheading:17847012-DNA, Mitochondrial,
pubmed-meshheading:17847012-Female,
pubmed-meshheading:17847012-Genes, Mitochondrial,
pubmed-meshheading:17847012-Haplotypes,
pubmed-meshheading:17847012-Humans,
pubmed-meshheading:17847012-Infant,
pubmed-meshheading:17847012-Infant, Newborn,
pubmed-meshheading:17847012-Jews,
pubmed-meshheading:17847012-Magnetic Resonance Imaging,
pubmed-meshheading:17847012-Male,
pubmed-meshheading:17847012-Mitochondria,
pubmed-meshheading:17847012-Mutation,
pubmed-meshheading:17847012-Pedigree,
pubmed-meshheading:17847012-Pons
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pubmed:year |
2007
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pubmed:articleTitle |
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
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pubmed:affiliation |
Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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