Article
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2020
Castilla-Vallmanya Laura, Selmer Kaja K, Dimartino Clémantine, Rabionet Raquel, Blanco-Sánchez Bernardo, Yang Sandra, Reijnders Margot R F, van Essen Antonie J, Oufadem Myriam, Vigeland Magnus D, Stadheim Barbro, Houge Gunnar, Cox Helen, Kingston Helen, Clayton-Smith Jill, Innis Jeffrey W, Iascone Maria, Cereda Anna, Gabbiadini Sara, Chung Wendy K, Sanders Victoria, Charrow Joel, Bryant Emily, Millichap John, Vitobello Antonio, Thauvin Christel, Mau-Them Frederic Tran, Faivre Laurence, Lesca Gaetan, Labalme Audrey, Rougeot Christelle, Chatron Nicolas, Sanlaville Damien, Christensen Katherine M, Kirby Amelia, Lewandowski Raymond, Gannaway Rachel, Aly Maha, Lehman Anna, Clarke Lorne, Graul-Neumann Luitgard, Zweier Christiane, Lessel Davor, Lozic Bernarda, Aukrust Ingvild, Peretz Ryan, Stratton Robert, Smol Thomas, Dieux-Coëslier Anne, Meira Joanna, Wohler Elizabeth, Sobreira Nara, Beaver Erin M, Heeley Jennifer, Briere Lauren C, High Frances A, Sweetser David A, Walker Melissa A, Keegan Catherine E, Jayakar Parul, Shinawi Marwan, Kerstjens-Frederikse Wilhelmina S, Earl Dawn L, Siu Victoria M, Reesor Emma, Yao Tony, Hegele Robert A, Vaske Olena M, Rego Shannon, Shapiro Kevin A, Wong Brian, Gambello Michael J, McDonald Marie, Karlowicz Danielle, Colombo Roberto, Serretti Alessandro, Pais Lynn, O'Donnell-Luria Anne, Wray Alison, Sadedin Simon, Chong Belinda, Tan Tiong Y, Christodoulou John, White Susan M, Slavotinek Anne, Barbouth Deborah, Morel Swols Dayna, Parisot Mélanie, Bole-Feysot Christine, Nitschké Patrick, Pingault Véronique, Munnich Arnold, Cho Megan T, Cormier-Daire Valérie, Balcells Susanna, Lyonnet Stanislas, Grinberg Daniel, Amiel Jeanne, Urreizti Roser, Gordon Christopher T
Abstract excerpt
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of...