Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Grants

Funding Acknowledgements

The following authors were supported by the Australian NHMRC: N.G.L. (APP1117510), E.C.O. (APP0633194, APP1090428), G.L.O. (APP1056285), R.G. (APP1074954), and G.R. (APP1122952). Additional author funding was provided by Muscular Dystrophy NSW (G.L.O. and R.G.), the Royal Australasian College of Physicians (G.L.O.), and the Government of Western Australia Department of Health FutureHealth WA Merit Awards (G.R.). This work was further supported by NHMRC Project and Centre of Research Excellence Grants (APP1022707, APP1031893, APP1113531; K.N.N., N.G.L., N.F.C., S.C.); the Association Francaise contre les Myopathies (18724); the National Heart, Lung and Blood Institute (R01 HL115988; H.G., UM1 HG008900; D.G.M.); NIH Intramural Research Program funding from the National Institute of Neurological Disorders and Stroke (C.G.B.); the Muscular Dystrophy Association (MDA383249; A.H.B.); the National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01 AR044345; A.H.B, R01 NS029525: E.P.H.); the National Institute of Child Health and Human Development (R01 HD075802; A.H.B.); generous funding support from the Foye family (A.H.B.); the National Human Genome Research Institute (D.G.M.); the National Eye Institute (D.G.M.); the Leducq Foundation (I.R.); the Wellcome Trust (107469/Z/15/Z; J.S.W.); the NIHR Royal Brompton Cardiovascular Biomedical Research Unit (J.S.W.), the MRC (J.S.W.) and the Juselius Foundation and the Academy of Finland Foundation (B.U.). In addition, we thank the NIH Intramural Sequencing Center for performing exome sequencing in patients diagnosed by NIH-affiliated team members. NIH sequencing was partially funded through the Clinical Center Genomics Opportunity, which is sponsored by the National Human Genome Research Institute, the NIH Deputy Director for Intramural Research, and the NIH Clinical Center. We also acknowledge the Tissu-Tumorotheque Est (CRB-HCL Hospices Civils de Lyon BB-0033-00046) for provision of human biological samples and associated data used during the course of this study.We thank the patients and families for their involvement in this study; Dr Professor Caroline Sewry for her expert advice regarding the histopathology-focused aspects of the study; Professor Francesco Muntoni and the Dubowitz Neuromuscular Centre at the UCL Great Ormond Street Institute of Child Health for their support of this project during its final stages; and the following co-contributors: Dr Anna Sarkozy (John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom: clinical data acquisition), Karen Stals (Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom: variant analysis), Chandra Saripalli (Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ: western blot analysis of patient samples), Dr Sylvie Odent, Dr Melanie Fradin and Professor Jean-Paul Leroy (Rennes Hospital: clinical data acquisition and patient sampling), and Laurene Ben Aim, Christophe Caloustian, and Dr Robert Olaso (Centre National de Genotypage, Evry, France).