Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia

• Giulia Barcia,
• Dinusha Pandithan,
• Benedetta Ruzzenente,
• Zahra Assouline,
• Alessandra Pennisi,
• Clothilde Ormieres,
• Claude Besmond,
• Charles-Joris Roux,
• Nathalie Boddaert,
• Isabelle Desguerre,
• David R. Thorburn,
• Drago Bratkovic,
• Arnold Munnich,
• Jean-Paul Bonnefont,
• Agnès Rötig,
• Julie Steffann

Affiliations

Giulia Barcia

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris

Dinusha Pandithan

Metabolic Clinic, Women’s and Children’s Hospital, North Adelaide

Benedetta Ruzzenente

Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris

Zahra Assouline

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris

Alessandra Pennisi

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris

Clothilde Ormieres

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris

Claude Besmond

Translational Genetics Laboratory, UMR U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris

Charles-Joris Roux

Department of Pediatric Radiology, Hospital Necker Enfants Malades, Paris

Nathalie Boddaert

Department of Pediatric Radiology, Hospital Necker Enfants Malades, Paris

Isabelle Desguerre

Department of Pediatric Neurology, Hospital Necker-Enfants Malades, Paris

David R. Thorburn

Murdoch Children’s Research Institute and Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052

Drago Bratkovic

Metabolic Clinic, Women’s and Children’s Hospital, North Adelaide

Arnold Munnich

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women’s and Children’s Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris

Jean-Paul Bonnefont

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women’s and Children’s Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris

Agnès Rötig

Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris

Julie Steffann

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women’s and Children’s Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris