A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Paola Da Pozzo, Elena Cardaioli, Edoardo Malfatti, Gian Nicola Gallus, Alessandro Malandrini, Carmen Gaudiano, Gianna Berti, Federica Invernizzi, Massimo Zeviani, Antonio Federico

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Abstract

We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 was found, affecting the T arm of the mitochondrial (mt) tRNAPro gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNAPro point mutation to be associated with an mt disorder. The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNAPro mutations.

Original languageEnglish
Pages (from-to)1092-1096
Number of pages5
JournalEuropean Journal of Human Genetics
Volume17
Issue number8
DOIs
Publication statusPublished - 2009

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Da Pozzo, P., Cardaioli, E., Malfatti, E., Gallus, G. N., Malandrini, A., Gaudiano, C., Berti, G., Invernizzi, F., Zeviani, M., & Federico, A. (2009). A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. European Journal of Human Genetics, 17(8), 1092-1096. https://doi.org/10.1038/ejhg.2009.12