Article
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
American journal of human genetics - 2 Jan 2025
Sabeh Pascale, Dumas Samantha A, Maios Claudia, Daghar Hiba, Korzeniowski Marek, Rousseau Justine, Lines Matthew, Guerin Andrea, Millichap John J, Landsverk Megan, Grebe Theresa, Lindstrom Kristin, Strober Jonathan, Ait Mouhoub Tarik, Zweier Christiane, Steinraths Michelle, Hebebrand Moritz, Callewaert Bert, Abou Jamra Rami, Kautza-Lucht Monika, Wegler Meret, Kruszka Paul, Kumps Candy, Banne Ehud, Waberski Marta Biderman, Dieux Anne, Raible Sarah, Krantz Ian, Medne Livija, Pechter Kieran, Villard Laurent, Guerrini Renzo, Bianchini Claudia, Barba Carmen, Mei Davide, Blanc Xavier, Kallay Christine, Ranza Emmanuelle, Yang Xiao-Ru, O'Heir Emily, Donald Kirsten A, Murugasen Serini, Bruwer Zandre, Calikoglu Muge, Mathews Jennifer M, Lesieur-Sebellin Marion, Baujat Geneviève, Derive Nicolas, Pierson Tyler Mark, Murrell Jill R, Shillington Amelle, Ormieres Clothilde, Rondeau Sophie, Reis André, Fernandez-Jaen Alberto, Au Ping Yee Billie, Sweetser David A, Briere Lauren C, Couque Nathalie, Perrin Laurence, Schymick Jennifer, Gueguen Paul, Lefebvre Mathilde, Van Andel Michael, Juusola Jane, Antonarakis Stylianos E, Parker J Alex, Burnett Barrington G, Campeau Philippe M
Abstract excerpt
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct...
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