Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT |
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Authors: | Vivienne CM Neeve Angela Pyle Veronika Boczonadi Aurora Gomez-Duran Helen Griffin Mauro Santibanez-Koref Ulrike Gaiser Peter Bauer Andreas Tzschach Patrick F Chinnery Rita Horvath |
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Institution: | 1. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK;2. University Children''s Hospital, University of Tübingen, Germany;3. Institute of Human Genetics, University of Tübingen, Germany |
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Abstract: | Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain deficiency. The mutations lead to undetectable levels of the MTFMT protein. Blue native polyacrylamide gel electrophoresis showed decreased complexes I and IV, and additional products stained with complex V antibodies, however the overall steady state level of mt-tRNAMet was normal. Our data illustrate that exome sequencing is an excellent diagnostic tool, and its value in clinical medicine is enormous, however it can only be optimally exploited if combined with detailed phenotyping and functional studies. |
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