Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
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ABSTRACT:
SUBMITTER: Edvardson S
PROVIDER: S-EPMC2227936 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
Edvardson Simon S Shaag Avraham A Kolesnikova Olga O Gomori John Moshe JM Tarassov Ivan I Einbinder Tom T Saada Ann A Elpeleg Orly O
American journal of human genetics 20070824 4
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 ...[more]
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