Article
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
American journal of human genetics - 3 May 2018
Guissart Claire, Latypova Xenia, Rollier Paul, Khan Tahir N, Stamberger Hannah, McWalter Kirsty, Cho Megan T, Kjaergaard Susanne, Weckhuysen Sarah, Lesca Gaetan, Besnard Thomas, Õunap Katrin, Schema Lynn, Chiocchetti Andreas G, McDonald Marie, de Bellescize Julitta, Vincent Marie, Van Esch Hilde, Sattler Shannon, Forghani Irman, Thiffault Isabelle, Freitag Christine M, Barbouth Deborah Sara, Cadieux-Dion Maxime, Willaert Rebecca, Guillen Sacoto Maria J, Safina Nicole P, Dubourg Christèle, Grote Lauren, Carré Wilfrid, Saunders Carol, Pajusalu Sander, Farrow Emily, Boland Anne, Karlowicz Danielle Hays, Deleuze Jean-François, Wojcik Monica H, Pressman Rena, Isidor Bertrand, Vogels Annick, Van Paesschen Wim, Al-Gazali Lihadh, Al Shamsi Aisha Mohamed, Claustres Mireille, Pujol Aurora, Sanders Stephan J, Rivier François, Leboucq Nicolas, Cogné Benjamin, Sasorith Souphatta, Sanlaville Damien, Retterer Kyle, Odent Sylvie, Katsanis Nicholas, Bézieau Stéphane, Koenig Michel, Davis Erica E, Pasquier Laurent, Küry Sébastien
Abstract excerpt
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three...
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