A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

• Sara Gonçalves ,

  Contributed equally to this work with: Sara Gonçalves, Julie Patat

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Laboratory of Epithelial Biology and Disease, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

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• Julie Patat ,

  Contributed equally to this work with: Sara Gonçalves, Julie Patat

  Roles Formal analysis, Investigation, Methodology, Validation, Visualization

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  http://orcid.org/0000-0002-6449-2724

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• Maria Clara Guida,

  Roles Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Development, Aging and Regeneration Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, United States of America

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• Noelle Lachaussée,

  Roles Formal analysis, Investigation, Validation, Visualization, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  ⨯
• Christelle Arrondel,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

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• Martin Helmstädter,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Medicine IV, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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• Olivia Boyer,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France, Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique—Hôpitaux de Paris (AP-HP), Paris, France

  http://orcid.org/0000-0002-3957-1359

  ⨯
• Olivier Gribouval,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  http://orcid.org/0000-0003-0238-8224

  ⨯
• Marie-Claire Gubler,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  ⨯
• Geraldine Mollet,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  ⨯
• Marlène Rio,

  Roles Resources, Writing – review & editing

  Affiliation Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

  ⨯
• Marina Charbit,

  Roles Resources, Writing – review & editing

  Affiliation Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique—Hôpitaux de Paris (AP-HP), Paris, France

  ⨯
• Christine Bole-Feysot,

  Roles Resources, Writing – review & editing

  Affiliation Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  ⨯
• Patrick Nitschke,

  Roles Resources, Writing – review & editing

  Affiliation Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

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• Tobias B. Huber,

  Roles Funding acquisition, Writing – review & editing

  Affiliations Department of Medicine IV, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany, BIOSS Center for Biological Signalling Studies and Center for Systems Biology (ZBSA), Albert-Ludwigs-University, Freiburg, Germany, III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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• Patricia G. Wheeler,

  Roles Resources, Writing – review & editing

  Affiliation Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, United States of America

  ⨯
• Devon Haynes,

  Roles Resources, Writing – review & editing

  Affiliation Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, United States of America

  ⨯
• Jane Juusola,

  Roles Resources, Writing – review & editing

  Affiliation GeneDx, Inc, Gaithersburg, MD, United States of America

  ⨯
• Thierry Billette de Villemeur,

  Roles Resources, Writing – review & editing

  Affiliations Sorbonne Université, UPMC, GRC ConCer-LD and AP-HP, Hôpital Trousseau, Service de Neuropédiatrie—Pathologie du développement, Paris, France, Centre de référence des déficits intellectuels de causes rares, Inserm U 1141, Paris, France

  ⨯
• Caroline Nava,

  Roles Resources, Writing – review & editing

  Affiliations Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et de la Moèlle Épinière (ICM), Paris, France, AP-HP, GH Pitié-Salpêtrière, Department of Genetics, Unit of Developmental Genomics, Paris, France

  ⨯
• Alexandra Afenjar,

  Roles Resources, Writing – review & editing

  Affiliation AP-HP, Hôpital Trousseau, Centre de référence des malformations et maladies congénitales du cervelet, Département de génétique et embryologie médicale, Paris, France

  ⨯
• Boris Keren,

  Roles Resources, Writing – review & editing

  Affiliation AP-HP, GH Pitié-Salpêtrière, Department of Genetics, Unit of Developmental Genomics, Paris, France

  ⨯
• Rolf Bodmer,

  Roles Investigation, Project administration, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing

  Affiliation Development, Aging and Regeneration Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, United States of America

  http://orcid.org/0000-0001-9087-1210

  ⨯
• Corinne Antignac ,

  Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing

  * E-mail: corinne.antignac@inserm.fr (CA); matias.simons@institutimagine.org (MS)

  Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France, Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

  http://orcid.org/0000-0002-9934-4940

  ⨯
•  [ ... ],
• Matias Simons

  Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: corinne.antignac@inserm.fr (CA); matias.simons@institutimagine.org (MS)

  Affiliations Laboratory of Epithelial Biology and Disease, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

  http://orcid.org/0000-0003-3959-6350

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