Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; Fitzpatrick, David; Rebecca, L Poole; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Peter, D Turnpenny; Faundes, Víctor; Lorena Santa María,; Carolina Mendoza Fuentes,; Mabe, Paulina; Shaun, A Hussain; Sureni, V Mullegama; Torti, Erin; Oehl-Jaschkowitz, Barbara; Lina Basel Salmon,; Orenstein, Naama; Noa Ruhrman Shahar,; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Carlos, E Prada; Haack, Tobias; David, J Elliott

doi:10.1016/j.gim.2022.100003

Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work was to associate germline variants in the TRA2B gene to a novel neurodevelopmental disorder.

Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome / Francis Ramond , Caroline Dalgliesh , Mona Grimmel , Oded Wechsberg , Annalisa Vetro , Renzo Guerrini , David FitzPatrick , Rebecca L Poole , Marine Lebrun , Allan Bayat , Ute Grasshoff , Miriam Bertrand , Dennis Witt , Peter D Turnpenny , Víctor Faundes , Lorena Santa María , Carolina Mendoza Fuentes , Paulina Mabe , Shaun A Hussain , Sureni V Mullegama , Erin Torti , Barbara Oehl-Jaschkowitz , Lina Basel Salmon , Naama Orenstein , Noa Ruhrman Shahar , Ofir Hagari , Lily Bazak , Sabine Hoffjan , Carlos E Prada , Tobias Haack , David J Elliott. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - ELETTRONICO. - 25:(2023), pp. 0-0. [10.1016/j.gim.2022.100003]