1. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.
- Author
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Morel, Godelieve, Bannwarth, Sylvie, Chaussenot, Annabelle, Cano, Aline, Fragaki, Konstantina, Ait-El-Mkadem, Samira, Rouzier, Cecile, De Paula, Andre Maues, Chabrol, Brigitte, and Paquis-Flucklinger, Veronique
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MITOCHONDRIAL pathology , *PHENOTYPES , *PSYCHOMOTOR disorders , *BOYS , *CYTOCHROME oxidase , *GENETIC mutation , *DIAGNOSIS , *DISEASES - Abstract
An 11-year-old boy with psychomotor delay, exercise intolerance, ptosis and growth delay had a muscle biopsy showing typical mitochondrial alterations (60% of ragged-red fibers and 90% of cytochrome-c oxidase-deficient fibers). Next-generation sequencing revealed a novel heteroplasmic mutation (m.15958A>T) in the MTTP gene that encodes tRNA Pro . The mutation was not present in the accessible non-muscle tissues of the patient's asymptomatic mother. Mutations in the rarely affected MTTP gene are responsible for different clinical presentations. We report the third early-onset case associated with a mutation in this gene. The severity of myopathy is likely related to the high mutation rate (96%) found in the patient's muscle. The clinical heterogeneity associated with MTTP mutations illustrates the value of the next-generation sequencing in routine diagnosis of mitochondrial diseases. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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