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

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. agarcia@sjdhospitalbarcelona.org.
• ² Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. agarcia@sjdhospitalbarcelona.org.
• 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. apujol@idibell.cat.
• ²⁰ Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. apujol@idibell.cat.
• ²¹ Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Catalonia, Spain. apujol@idibell.cat.