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IVR researchers find new genetic cause of retinitis pigmentosa

Tuesday, October 27, 2015

IVR investigators have reported the discovery of a new genetic cause of retinitis pigmentosa. The gene TRNT1 is responsible for adding the CCA nucleotides to the 3' of tRNAs, and is therefore essential for translation of messenger RNAs into proteins. Severe genotypes in TRNT1 have been previously shown to cause a serious syndromic disorder that includes sideroblastic anemia. However, the genotypes of the patients reported in the current paper cause a much milder phenotype characterized by adult-onset autosomal recessive retinitis pigmentosa and asymptomatic erythrocytic microcytosis.

The article appeared online October 22, 2015 in Human Molecular Genetics: Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis

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