A new mutation in the mitochondrial tRNA(Pro) gene associated with early-onset neuromuscular phenotype and ragged-red fibers

作者：Morel Godelieve; Bannwarth Sylvie; Chaussenot Annabelle; Cano Aline; Fragaki Konstantina; Ait El Mkadem Samira; Rouzier Cecile; De Paula Andre Maues; Chabrol Brigitte; Paquis Flucklinger Veronique^*

来源：Neuromuscular Disorders, 2016, 26(12): 885-889.

DOI：10.1016/j.nmd.2016.09.012

• Mitochondrial myopathy
• mtDNA
• MTTP gene
• Neuromuscular disease
• New mutation
• NGS

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.

• 出版日期2016-12