Article
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025
Talarico Mariagrazia, de Bellescize Julitta, De Wachter Matthias, Le Guillou Xavier, Le Meur Guylène, Egloff Matthieu, Isidor Bertrand, Cogné Benjamin, Beysen Diane, Rollier Paul, Fradin Melanie, Pasquier Laurent, Guella Ilaria, Hickey Scott E, Benke Paul J, Shillington Amelle, Kumps Candy, Vanakker Olivier, Gerkes Erica H, Lakhani Shenela, Romanova Irina, Kanivets Ilya, Brugger Melanie, Vill Katharina, Caylor Raymond C, Skinner Cindy, Tinker Rory J, Stödberg Tommy, Nümann Astrid, Haack Tobias B, Deininger Natalie, Hengel Holger, Jury Jeanne, Conrad Solène, Mercier Sandra, Yoon Grace, Tsuboyama Melissa, Barcia Giulia, Gitiaux Cyril, Rio Marlène, Bevot Andrea, Redon Sylvia, Uguen Kevin, Wonneberger Antje, Schulz Alexander, Timmann Dagmar, Karlowicz Danielle Hays, Chatron Nicolas, Carnevale Amanda, Mahida Sonal, Õunap Katrin, Kury Sébastien, Cabet Sara, Lesca Gaetan
Abstract excerpt
PURPOSE: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. METHODS: Forty individuals (30 unrelated; 10 siblings from 4 families) carrying RORA pathogenic/likely pathogenic variants were collected through an international collaboration. RESULTS: The 33...
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