Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

L Castilla-Vallmanya; KK Selmer; C Dimartino; R Rabionet; B Blanco-Sánchez; S Yang; MRF Reijnders; AJ van Essen; M Oufadem; MD Vigeland; B Stadheim; G Houge; H Cox; H Kingston; J Clayton-Smith; JW Innis; M Iascone; A Cereda; S Gabbiadini; WK Chung; V Sanders; J Charrow; E Bryant; J Millichap; A Vitobello; C Thauvin; FT Mau-Them; L Faivre; G Lesca; A Labalme; C Rougeot; N Chatron; D Sanlaville; KM Christensen; A Kirby; R Lewandowski; R Gannaway; M Aly; A Lehman; L Clarke; L Graul-Neumann; C Zweier; D Lessel; B Lozic; I Aukrust; R Peretz; R Stratton; T Smol; A Dieux-Coëslier; J Meira; E Wohler; N Sobreira; EM Beaver; J Heeley; LC Briere; FA High; DA Sweetser; MA Walker; CE Keegan; P Jayakar; M Shinawi; WS Kerstjens-Frederikse; DL Earl; VM Siu; E Reesor; T Yao; RA Hegele; OM Vaske; S Rego; KA Shapiro; B Wong; MJ Gambello; M McDonald; D Karlowicz; R Colombo; A Serretti; L Pais; A O’Donnell-Luria; A Wray; S Sadedin; B Chong; TY Tan; J Christodoulou; SM White; A Slavotinek; D Barbouth; D Morel Swols; M Parisot; C Bole-Feysot; P Nitschké; V Pingault; A Munnich; MT Cho; V Cormier-Daire; S Balcells; S Lyonnet; D Grinberg; J Amiel; R Urreizti; CT Gordon

Journal article

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, B Blanco-Sánchez, S Yang, MRF Reijnders, AJ van Essen, M Oufadem, MD Vigeland, B Stadheim, G Houge, H Cox, H Kingston, J Clayton-Smith, JW Innis, M Iascone, A Cereda, S Gabbiadini, WK Chung Show all

Genetics in Medicine | ELSEVIER SCIENCE INC | Published : 2020

DOI: 10.1038/s41436-020-0792-7

Abstract

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 the variants through transcriptomic analysis of patient fibroblasts. 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 comparison..

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University of Melbourne Researchers

Tiong Yang Tan Author

John Christodoulou Author

Susan White Author

Grants

Awarded by National Human Genome Research Institute

Funding Acknowledgements

We thank the families for their participation. This work was supported by the Agence Nationale de la Recherche (CranioRespiro and ANR-10-IAHU-01), MSD Avenir (Devo-Decode), Spanish Ministerio de Ciencia e Innovacion (SAF2016-75946R), CIBERER (ACCI2018-15), Associacio Sindrome Opitz C, the Morton S. and Henrietta K. Sellner Professorship in Human Genetics (J.W.I.), JPB Foundation and the Simons Foundation SFARI program (W.K.C.), German Research Foundation (DFG; LE 4223/1; to D.L.), BC Children's Hospital Foundation and Genome BC (CAUSES Study), PG23/FROM 2017 Call for Independent Research as part of the Rapid Analysis for Rapid carE project (M.I., A.C.), the Victorian Government's Operational Infrastructure Support Program, the National Human Genome Research Institute (NHGRI) (UM1 HG008900, U01HG009599, UM1 HG006542), a National Institutes of Health (NIH) Common Fund grant (U01HG00769) and the Health Innovation Challenge Fund (DDD study; grant number HICF-1009-003). See Table for supplementary acknowledgements.