Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
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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, Undiagnosed Diseases Network, Care4Rare Canada Consortium, 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
Аннотация
METHODS: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts.
RESULTS: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts.
CONCLUSION: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies.