WIVR investigators have just reported the discovery of a new genetic cause of retinitis pigmentosa (LINK). 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.
Mutations in TRNT1 cause autosomal recessive retinitis pigmentosa
October 26th, 2015