A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

• Alexandre Bolze ,

  * E-mail: alexandre.bolze@gmail.com

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Avinash Abhyankar,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Audrey V. Grant,

  Affiliation Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Medicale, INSERM U980, University Paris Descartes, Paris, France

  ⨯
• Bhavi Patel,

  Affiliation Wilson Pharmacy, Department of Pharmaceutical and Biomedical Sciences, University of Georgia, Athens, Georgia, United States of America

  ⨯
• Ruchi Yadav,

  Affiliation Wilson Pharmacy, Department of Pharmaceutical and Biomedical Sciences, University of Georgia, Athens, Georgia, United States of America

  ⨯
• Minji Byun,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Daniel Caillez,

  Affiliation Laboratory of Pathology, Groupe Hospitalier du Havre, Jacques Monod Hospital, Montivilliers, France

  ⨯
• Jean-Francois Emile,

  Affiliation EA4340, University Versailles SQY and Ambroise Paré Hospital, APHP, Boulogne, France

  ⨯
• Marçal Pastor-Anglada,

  Affiliation Department of Biochemistry and Molecular Biology, Institute of Biomedicine (IBUB), University of Barcelona and National Institute for the Study of Liver and Gastrointestinal Diseases (CIBER EHD), Barcelona, Spain

  ⨯
• Laurent Abel,

  Affiliations St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Medicale, INSERM U980, University Paris Descartes, Paris, France

  ⨯
• Anne Puel,

  Affiliation Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Medicale, INSERM U980, University Paris Descartes, Paris, France

  ⨯
• Rajgopal Govindarajan,

  Affiliation Wilson Pharmacy, Department of Pharmaceutical and Biomedical Sciences, University of Georgia, Athens, Georgia, United States of America

  ⨯
• Loic de Pontual,

  Affiliation Department of Pediatrics, Jean Verdier Hospital, APHP, University Paris 13, Bondy, France

  ⨯
• Jean-Laurent Casanova

  Affiliations St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Medicale, INSERM U980, University Paris Descartes, Paris, France, Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France

  ⨯