Peer-Reviewed Publication
Pediatr Neurol2024;16045-53.November 1, 2024Journal Article
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Maria Carla Borroto1, Heena Patel1, Siddharth Srivastava2, Lindsay C Swanson3, Boris Keren4, Sandra Whalen5, Cyril Mignot6, Xiaodong Wang7, Qian Chen8, Jill A Rosenfeld9, Scott McLean10, Rebecca O Littlejohn10, , Lisa Emrick11, Lindsay C Burrage9, Ruben Attali12, Gaetan Lesca13, Cecile Acquaviva-Bourdain14, Catherine Sarret15, Laurie H Seaver16, Konrad Platzer17, Tobias Bartolomaeus17, Cornelia Wünsch18, Susann Fischer18, Ana Maria Rodriguez Barreto19, Jorge L Granadillo20, Elisabeth Schreiner21, Theresa Brunet22, Ulrich A Schatz23, Isabelle Thiffault24, Sureni V Mullegama25, Jacques L Michaud26, Fadi F Hamdan27, Elsa Rossignol1, Philippe M Campeau28
1Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada.
2Department of Neurology, Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
3Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
4Département de génétique, APHP-Sorbonne Université, Hôpital de la Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France.
5UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, Paris, France.
6Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
7Cipher Gene Ltd., Beijing, China.
8Children's Hospital, Capital Institute of Pediatrics, Beijing, China.
9Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
10Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
11Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
12Genomic Research Department, Emedgene, an Illumina Company, Tel Aviv, Israel.
13Department of Medical Genetics, Lyon University Hospital, University Claude Bernard Lyon 1, Lyon, France.
14Hospices civils de Lyon, service biochimie et biologie moléculaire, UF maladies héréditaires du métabolisme, Bron, France.
15CHU Estaing, Pôle Pédiatrie, Service de Génétique, Clermont-Ferrand, France.
16Corewell Health Helen DeVos Children's Hospital, Grand Rapids, Michigan; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan.
17Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
18Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany.
19Division of Clinical Genetics, Nicklaus Children's Hospital, Miami, Florida.
20Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri.
21Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria.
22Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, LMU - University of Munich, Munich, Germany.
23Institute of Human Genetics, Technical University of Munich, Munich, Germany.
24Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.
25GeneDx, Gaithersburg, Maryland.
26Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada.
27Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada.
28Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada. Electronic address: p.campeau@umontreal.ca.
Abstract
BACKGROUND: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between RAB11A variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of RAB11A-associated neurodevelopmental disorder and explore genotype-phenotype correl…
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