Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
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CORRESPONDENCE
Impairment of the mitochondrial one‑carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome Àngels García‑Cazorla1,2 · Edgard Verdura2,3 · Natalia Juliá‑Palacios1,2 · Eric N. Anderson4 · Leire Goicoechea2,3 · Laura Planas‑Serra2,3 · Enkhtuul Tsogtbaatar5,6,7 · Nikita R. Dsouza8 · Agatha Schlüter2,3 · Roser Urreizti2,9 · Jessica M. Tarnowski10,11 · Ralitza H. Gavrilova10,11 · SHMT2 Working Group · Montserrat Ruiz2,3 · Agustí Rodríguez‑Palmero2,3,12 · Stéphane Fourcade2,3 · Benjamin Cogné13 · Thomas Besnard13 · Marie Vincent13 · Stéphane Bézieau13 · Clifford D. Folmes5,6,7 · Michael T. Zimmermann8,14 · Eric W. Klee10,15,16 · Udai Bhan Pandey4 · Rafael Artuch2,9 · Margot A. Cousin15,16 · Aurora Pujol2,3,17 Received: 18 June 2020 / Revised: 31 August 2020 / Accepted: 31 August 2020 © The Author(s) 2020
Keywords SHMT2 · Mitochondrial one-carbon metabolism · Congenital microcephaly · Perisylvian polymicrogyria · Cardiomyopathy
The members of SHMT2 Working Group are listed in the Acknowledgements section. Àngels García-Cazorla and Edgard Verdura contributed equally to this study. Margot A. Cousin and Aurora Pujol contributed equally to this study. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00401-020-02223-w) contains supplementary material, which is available to authorized users. * Àngels García‑Cazorla [email protected] * Aurora Pujol [email protected] 1
2
Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950 Barcelona, Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain
3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908 Barcelona, Catalonia, Spain
4
Department of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA
5
Department of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ 85260, USA
6
Department of Biochemistry and Molecular Biology, Mayo Clinic, Scottdale, AZ 85260, USA
7
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottdale, AZ 85260, USA
8
Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA
9
Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, and MetabERN, 08950 Barcelona, Catalonia, Spain
10
Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA
11
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
12
Department of Pediatrics, Paediatric Neurology Unit, University Hospital Germans Trias i Pujol, 08916 Badalona, Catalonia, Spain
13
Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l’Institut du Thorax, Nantes, 440
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