Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart; Xenia Latypova; Paul Rollier; Tahir Khan; Hannah Stamberger; Kirsty Mcwalter; Megan Cho; Susanne Kjaergaard; Sarah Weckhuysen; Gaetan Lesca; Thomas Besnard; Katrin Ounap; Lynn Schema; Andreas G. Chiocchetti; Marie Mcdonald; Julitta de Bellescize; Marie Vincent; Hilde van Esch; Shannon Sattler; Irman Forghani; Isabelle Thiffault; Christine M. Freitag; Deborah Sara Barbouth; Maxime Cadieux-Dion; Rebecca Willaert; Maria Guillen Sacoto; Nicole Safina; Christèle Dubourg; Lauren Grote; Wilfrid Carré; Carol Saunders; Sander Pajusalu; Emily Farrow; Anne Boland; Danielle Hays Karlowicz; Jean-François Deleuze; Monica Wojcik; Rena Pressman; Bertrand Isidor; Annick Vogels; Wim van Paesschen; Lihadh Al-Gazali; Aisha Mohamed Al Shamsi; Mireille Claustres; Aurora Pujol; Stephan Sanders; Francois Rivier; Nicolas Leboucq; Benjamin Cogné; Souphatta Sasorith; Damien Sanlaville; Kyle Retterer; Sylvie Odent; Nicholas Katsanis; Stéphane Bézieau; Michel Koenig; Erica Davis; Laurent Pasquier; Sébastien Küry

doi:10.1016/j.ajhg.2018.02.021

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xenia Latypova, Paul Rollier, Tahir Khan, Hannah Stamberger, Kirsty Mcwalter, Megan Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca, …

American Journal of Human Genetics, Vol.102(5), pp.744 - 759

05/2018

DOI: https://doi.org/10.1016/j.ajhg.2018.02.021

PMCID: PMC5986661

PMID: 29656859

Abstract

epilepsy

cerebellar ataxia

neurodevelopmental disorder

dual molecular effects

autistic features

RORA

intellectual disability

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Title: Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Creators - without role: Claire Guissart - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Xenia Latypova - Duke University
Paul Rollier - Centre Hospitalier Universitaire de Rennes
Tahir Khan - Duke University
Hannah Stamberger - University of Antwerp
Kirsty Mcwalter
Megan Cho
Susanne Kjaergaard - Department of Clinical Genetics
Sarah Weckhuysen - VIB-UAntwerp Center for Molecular Neurology
Gaetan Lesca - Hospices Civils de Lyon
Thomas Besnard - Institut du Thorax
Katrin Ounap - Tartu University Hospital
Lynn Schema - Fairview Health Services
Andreas G. Chiocchetti - Goethe University Frankfurt
Marie Mcdonald - Duke University
Julitta de Bellescize - Hospices Civils de Lyon
Marie Vincent - Inserm
Hilde van Esch - Human Molecular Genetics
Shannon Sattler - Urbana University
Irman Forghani - Dr. John T. Macdonald Foundation
Isabelle Thiffault - Children's Mercy Hospital
Christine M. Freitag - Goethe University Frankfurt
Deborah Sara Barbouth - Dr. John T. Macdonald Foundation
Maxime Cadieux-Dion - Children's Mercy Hospital
Rebecca Willaert
Maria Guillen Sacoto
Nicole Safina - Children's Mercy Hospital
Christèle Dubourg - Laboratoire de Génétique Cellulaire
Lauren Grote - Children's Mercy Hospital
Wilfrid Carré - Laboratoire de Génétique Cellulaire
Carol Saunders - University of Missouri–Kansas City
Sander Pajusalu - Tartu University Hospital
Emily Farrow - University of Missouri–Kansas City
Anne Boland - Direction de la Recherche Fondamentale
Danielle Hays Karlowicz - Duke University
Jean-François Deleuze
Monica Wojcik - Broad Institute
Rena Pressman - Dr. John T. Macdonald Foundation
Bertrand Isidor - Génétique Médicale & Génomique Fonctionelle
Annick Vogels
Wim van Paesschen - KU Leuven
Lihadh Al-Gazali - United Arab Emirates University
Aisha Mohamed Al Shamsi - Tawam Hospital
Mireille Claustres - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Aurora Pujol - Centre for Biomedical Network Research on Rare Diseases
Stephan Sanders - University of California, San Francisco
Francois Rivier - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Nicolas Leboucq - Centre Hospitalier Universitaire de Montpellier
Benjamin Cogné - Génétique Médicale & Génomique Fonctionelle
Souphatta Sasorith - Institut Universitaire de Recherche Clinique
Damien Sanlaville - Inserm
Kyle Retterer
Sylvie Odent - Centre Hospitalier Universitaire de Rennes
Nicholas Katsanis - Duke University
Stéphane Bézieau - Génétique Médicale & Génomique Fonctionelle
Michel Koenig - Laboratoire de Diagnostic Génétique [CHU Strasbourg]
Erica Davis - Duke University
Laurent Pasquier - Centre Hospitalier Universitaire de Rennes
Sébastien Küry - Génétique Médicale & Génomique Fonctionelle
Publication Details: American Journal of Human Genetics, Vol.102(5), pp.744 - 759
Grant note: National Human Genome Research Institute
Identifiers: 9933928609311
Academic Unit: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Language: English
Resource Type: Journal article
Local Fields: hal-01796580