Journal article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Tomasz J Nowakowski, Madelyn A Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H Willemsen, Bregje W van Bon, Tuula Rinne, Servi JC Stevens, Tjitske Kleefstra, Han G Brunner, Helger G Yntema Show all

Nature Communications | NATURE PUBLISHING GROUP | Published : 2019

Grants

Awarded by National Natural Science Foundation of China


Awarded by Simons Foundation Autism Research Initiative


Awarded by National Institutes of Health


Awarded by NIH


Awarded by NSFC


Awarded by Key R&D Program of Hunan Province


Awarded by SFARI


Awarded by Simons Foundation Functional Screen Award


Awarded by U.S. National Institutes of Health


Awarded by NIH F32


Awarded by National Heart, Lung and Blood Institute grant


Funding Acknowledgements

We thank Tonia Brown for assistance in editing this manuscript. We thank all of the families participating in this study. We are grateful to all of the families at the participating SSC sites, as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, E. Wijsman). We appreciate obtaining access to phenotypic data on SFARI Base. Approved researchers can obtain the SSC population dataset described in this study (https://www.sfari.org/resource/resources/simons-simplex-collection/) by applying at https://base.sfari.org.We would like to thank Drs. Emanuela Leonardi, Roberta Polli, Chiara Rigon, Ornella Galesi, and Giuseppe Calabrese for useful discussions and technical assistance. This work was supported by the following grants: the National Natural Science Foundation of China (NSFC 31671114, 81871079) to H.G.; Simons Foundation Autism Research Initiative (SFARI 303241) to E.E.E.; National Institutes of Health (NIH R01MH101221) to E.E.E.; NIH (R01MH100047) to R.A.B.; NIH (R01NS069605) to H.C.M.; NSFC (81330027, 81525007) to K.X.; Key R&D Program of Hunan Province (2018DK2016) to Z.H.; SFARI (491371) to T.J.N.; and a grant from the South Carolina Department of Disabilities to C.E.S. E.E.E. and H.J.B. are investigators of the Howard Hughes Medical Institute. This work is also supported by NIH (U54NS093793) to H.J.B., S.Y. and M.J.W.; H.J.B. is supported by NIH (R01GM067858, R24OD022005); S.Y. and M.F.W. by a Simons Foundation Functional Screen Award (368479). M.A.G. was supported by the U.S. National Institutes of Health (T32HG000035). We would like to thank Hongling Pan, Danqing Bei and Kai Yuan's lab for technical assistance. Confocal microscopy at Baylor College of Medicine is supported in part by NIH grant U54HD083092 to the Intellectual and Developmental Disabilities Research Center (IDDRC) Neurovisualization Core. P.C.M. is funded by CIHR and the Stand by Eli Foundation. J.C.A. is supported by NIH F32 (NS110174-01). WES for proband MA.p1 was provided by the University of Washington Center for Mendelian Genomics (UWCMG) and funded by the National Human Genome Research Institute and the National Heart, Lung and Blood Institute grant HG006493 to Drs. Debbie Nickerson, Michael Bamshad, and Suzanne Leal. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.