O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans; Anne H O'Donnell-Luria; Emanuela Argilli; Frederic Tran Mau-them; Antonio Vitobello; Marcus CY Chan; Jasmine Lee-Fong Fung; Megan Rech; Angela Abicht; Marion Aubert Mucca; Jason Carmichael; Nicolas Chassaing; Robin Clark; Christine Coubes; Anne-Sophie Denommé-Pichon; John Karl de Dios; Eleina England; Benoit Funalot; Marion Gerard; Maries Joseph; Colleen Kennedy; Camille Kumps; Marjolaine Willems; Ingrid M B.H van de Laar; Coranne Aarts-Tesselaar; Marjon van Slegtenhorst; Daphné Lehalle; Kathleen Leppig; Lennart Lessmeier; Lynn S Pais; Heather Paterson; Subhadra Ramanathan; Lance H Rodan; Andrea Superti-Furga; Brian H.Y. Chung; Elliott Sherr; Christian Netzer; Christian P Schaaf; Florian Erger

doi:10.1136/jmedgenet-2020-107470

Article info

Cognitive and behavioural genetics

Original research

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Authors

Clara Velmans Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany PubMed articles Google scholar articles
Anne H O'Donnell-Luria Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA PubMed articles Google scholar articles
Emanuela Argilli Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA PubMed articles Google scholar articles
Frederic Tran Mau-them UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France PubMed articles Google scholar articles
Antonio Vitobello UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France PubMed articles Google scholar articles
Marcus CY Chan Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong PubMed articles Google scholar articles
Jasmine Lee-Fong Fung Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong PubMed articles Google scholar articles
Megan Rech Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Angela Abicht Medical Genetics Center (MGZ), Munich, Germany PubMed articles Google scholar articles
Marion Aubert Mucca Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France PubMed articles Google scholar articles
Jason Carmichael Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA PubMed articles Google scholar articles
Nicolas Chassaing Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France PubMed articles Google scholar articles
Robin Clark Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA PubMed articles Google scholar articles
Christine Coubes Department of Medical Genetics, University Hospital Center Montpellier, Montpellier, Languedoc-Roussillon, France PubMed articles Google scholar articles
Anne-Sophie Denommé-Pichon UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France PubMed articles Google scholar articles
John Karl de Dios Department of Medical Genetics, Dayton Children's Hospital, Dayton, Ohio, USA PubMed articles Google scholar articles
Eleina England Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute, Cambridge, Massachusetts, USA PubMed articles Google scholar articles
Benoit Funalot Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France PubMed articles Google scholar articles
Marion Gerard Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France PubMed articles Google scholar articles
Maries Joseph Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA PubMed articles Google scholar articles
Colleen Kennedy Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA PubMed articles Google scholar articles
Camille Kumps Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland PubMed articles Google scholar articles
Marjolaine Willems Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France PubMed articles Google scholar articles
Ingrid M B.H van de Laar Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands PubMed articles Google scholar articles
Coranne Aarts-Tesselaar Department of Pediatrics, Amphia Hospital, Breda, North Brabant, Netherlands PubMed articles Google scholar articles
Marjon van Slegtenhorst Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands PubMed articles Google scholar articles
Daphné Lehalle Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France PubMed articles Google scholar articles
Kathleen Leppig Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Lennart Lessmeier Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany PubMed articles Google scholar articles
Lynn S Pais Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA PubMed articles Google scholar articles
Heather Paterson Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articles Google scholar articles
Subhadra Ramanathan Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA PubMed articles Google scholar articles
Lance H Rodan Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articles Google scholar articles
Andrea Superti-Furga Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland PubMed articles Google scholar articles
Brian H.Y. Chung Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong PubMed articles Google scholar articles
Elliott Sherr Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA PubMed articles Google scholar articles
Christian Netzer Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany PubMed articles Google scholar articles
Christian P Schaaf Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, Texas, USA PubMed articles Google scholar articles
Florian Erger Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany PubMed articles Google scholar articles

Correspondence to Dr Florian Erger, Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Nordrhein-Westfalen, Germany; florian.erger{at}uk-koeln.de

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Citation

Velmans C, O'Donnell-Luria AH, Argilli E, et al

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Journal of Medical Genetics 2022;59:697-705.

Publication history

Received November 20, 2020
Accepted July 2, 2021
First published July 28, 2021.

Online issue publication

June 27, 2022

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