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neurogenetics

, Volume 20, Issue 3, pp 165–172 | Cite as

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

  • Marcello Scala
  • Giorgia Brigati
  • Chiara FiorilloEmail author
  • Claudia Nesti
  • Anna Rubegni
  • Marina Pedemonte
  • Claudio Bruno
  • Mariasavina Severino
  • Maria Derchi
  • Carlo Minetti
  • F. M. Santorelli
Short Communication
  • 25 Downloads

Abstract

TSFM is a nuclear gene encoding the elongation factor Ts (EFTs), an essential component of mitochondrial translational machinery. Impaired mitochondrial translation is responsible for neurodegenerative disorders characterized by multiple respiratory chain complex defects, multisystemic involvement, and neuroradiological features of Leigh-like syndrome. With the use of a next-generation sequencing (NGS)–based multigene panel for mitochondrial disorders, we identified the novel TSFM homozygous variant c.547G>A (p.Gly183Ser) in a 5-year-old boy with infantile early onset encephalocardiomyopathy, sensorineural hearing loss, and peculiar partially reversible neuroimaging features. Our findings expand the phenotypic spectrum of TSFM-related encephalopathy, offering new insights into the natural history of brain involvement and suggesting that TSFM should be investigated in pediatric mitochondrial disorders with distinctive neurologic and cardiac involvement.

Keywords

Mitochondrial disease Neuroimaging Elongation factor Leigh syndrome 

Notes

Compliance with ethical standards

Tissue and blood samples were obtained for diagnostic purposes after ethical approval from the Ethic Committee of our Institution and written informed consent from the patient’s mother.

Supplementary material

10048_2019_582_MOESM1_ESM.jpg (80 kb)
ESM 1 (JPG 79 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Marcello Scala
    • 1
    • 2
  • Giorgia Brigati
    • 3
  • Chiara Fiorillo
    • 1
    • 2
    Email author
  • Claudia Nesti
    • 4
  • Anna Rubegni
    • 4
  • Marina Pedemonte
    • 3
  • Claudio Bruno
    • 3
  • Mariasavina Severino
    • 5
  • Maria Derchi
    • 6
  • Carlo Minetti
    • 1
    • 2
  • F. M. Santorelli
    • 4
  1. 1.Department of Pediatric Neurology and Muscular DisordersIRCCS Istituto Giannina GasliniGenoaItaly
  2. 2.University of GenoaGenoaItaly
  3. 3.Center of Translational and Experimental MyologyIRCCS Istituto Giannina GasliniGenoaItaly
  4. 4.Molecular Medicine for Neurodegenerative and Neuromuscular Diseases UnitIRCCS Fondazione Stella MarisPisaItaly
  5. 5.Neuroradiology UnitIRCCS Istituto Giannina GasliniGenoaItaly
  6. 6.Department of Pediatric CardiologyIRCCS Istituto Giannina GasliniGenoaItaly

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