Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

  • Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w.
Àngels García-Cazorla  1  2 ,  Edgard Verdura  3  4 ,  Natalia Juliá-Palacios  5  3 ,  Eric N Anderson  6 ,  Leire Goicoechea  3  4 ,  Laura Planas-Serra  3  4 ,  Enkhtuul Tsogtbaatar  7  8  9 ,  Nikita R Dsouza  10 ,  Agatha Schlüter  3  4 ,  Roser Urreizti  3  11 ,  Jessica M Tarnowski  12  13 ,  Ralitza H Gavrilova  12  13 ,  SHMT2 Working Group ,  Montserrat Ruiz  3  4 ,  Agustí Rodríguez-Palmero  3  4  14 ,  Stéphane Fourcade  3  4 ,  Benjamin Cogné  15 ,  Thomas Besnard  15 ,  Marie Vincent  15 ,  Stéphane Bézieau  15 ,  Clifford D Folmes  7  8  9 ,  Michael T Zimmermann  10  16 ,  Eric W Klee  12  17  18 ,  Udai Bhan Pandey  6 ,  Rafael Artuch  3  11 ,  Margot A Cousin  17  18 ,  Aurora Pujol  19  20  21
Affiliations
  • 1. Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain. [email protected].
  • 2. Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. [email protected].
  • 3. Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • 4. Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • 5. Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
  • 6. Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.
  • 7. Department of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • 8. Department of Biochemistry and Molecular Biology, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • 9. Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • 10. Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
  • 11. Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
  • 12. Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
  • 13. Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
  • 14. Department of Pediatrics, Paediatric Neurology Unit, University Hospital Germans Trias i Pujol, 08916, Badalona, Catalonia, Spain.
  • 15. Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.
  • 16. Clinical and Translational Science Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
  • 17. Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
  • 18. Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.
  • 19. Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. [email protected].
  • 20. Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. [email protected].
  • 21. Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Catalonia, Spain. [email protected].
PMID: 33015733 DOI: 10.1007/s00401-020-02223-w
Keywords
Cardiomyopathy; Congenital microcephaly; Mitochondrial one-carbon metabolism; Perisylvian polymicrogyria; SHMT2.