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

Autor: 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 J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that

Externí odkaz: https://doaj.org/article/663adb56ce6f405da787645af9303af8

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Autor: Paulien A Terhal, Rosa Pettinato, Jessica Jackson, Maria J. Guillen Sacoto, R. Frank Kooy, Rolph Pfundt, Grace E. VanNoy, Asbjørg Stray-Pedersen, Elizabeth Judd, Tuula Rinne, Rhonda E. Schnur, Marie José H. Van Den Boogaard, Jolien S. Klein Wassink-Ruiter, Paldeep S. Atwal, David A. Sweetser, Ilse J. Anderson, Jessica L. Waxler, Ilse M. van der Werf, Kristian Tveten, Alexander P.A. Stegmann, Petra de Vries, Alexandra Afenjar, Lisenka E.L.M. Vissers, Anke Van Dijck, Sonja A. de Munnik, Anthonie J. van Essen, Ivan Iossifov, Marcia C. Willing, Charu Kaiwar, Charlotte W. Ockeloen, Joris A. Veltman, Mieke M. van Haelst, Diane Doummar, Sandra Jansen, Marije Meuwissen, Eric W. Klee, Pankaj B. Agrawal, Ellen van Binsbergen, Bert B.A. de Vries, Victoria R. Sanders, A. Micheil Innes, Kristin G. Monaghan, Hilary Racher, Corrado Romano, Zeynep Coban-Akdemir, Albertien M. van Eerde, Eric J. Smeets, Caroline Nava, Lucia Castiglia, Boris Keren, Koen L.I. van Gassen

Publikováno v: European Journal of Human Genetics, 27(5), 738. Nature Publishing Group
European Journal of Human Genetics, 27(5), 738-746. Nature Publishing Group
European journal of human genetics
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L, Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen, K L, Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L, Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik, S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L, Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, ' De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms ', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746 . https://doi.org/10.1038/s41431-018-0292-2
Eur J Hum Genet
European Journal of Human Genetics, 27, 5, pp. 738-746
European Journal of Human Genetics, 27, 738-746

Determining pathogenicity of genomic variation identified by next-generation sequencing techniques can be supported by recurrent disruptive variants in the same gene in phenotypically similar individuals. However, interpretation of novel variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d0896a48e7dddd27391d52908cefac
https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

Autor: Elisa Tassano, Monica Fumagalli, V.G.C. Fergnani, Luigina Spaccini, Lorenzo Colombo, Donatella Greco, Silvana Guerneri, Giorgio Conte, Elisa Scola, Odoardo Picciolini, A. Righini, Cesare Danesino, Andrea Accogli, Paola Francesca Ajmone, Claudia Cinnante, Rosamaria Silipigni, Maria Francesca Bedeschi, Corrado Romano, Valeria Capra, Myriam Srour, Francesca Madia, Lucia Castiglia, A. Guala, Marcello Scala, R. Villa, Silvana Gangi

Introduction Cri-du-Chat Syndrome (CdCS) is a genetic condition due to deletions showing different breakpoints encompassing a critical region on the short arm of chromosome 5, located between p15.2 and p15.3, first defined by Niebuhr in 1978. The cla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f64ce31d378309e3762a6a43d324d28
https://hdl.handle.net/11567/1119290

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

Autor: Charles E. Schwartz, Marjolein H. Willemsen, Saadet Mercimek-Andrews, Amy B. Wilfert, Hugo J. Bellen, Alexander P.A. Stegmann, Tjitske Kleefstra, Pawel Stankiewicz, Benjamin Büttner, Hailun Ni, Rongjuan Zhao, Rami Abou Jamra, Mariëtte J.V. Hoffer, Kristin Herman, Marjan M. Weiss, Heather C Mefford, Huidan Wu, Deanna J. Erwin, Zhengmao Hu, Claudia A. L. Ruivenkamp, Helger G. Yntema, Cindy Colson, Alessandra Murgia, Maria Bottitta, Jane Juusola, Tianyun Wang, Stephen M. Malone, Kun Xia, Baosheng Zhu, Nicolas Richard, Jozef Gecz, Elisa Bettella, Tuula Rinne, Raphael Bernier, Emilia K. Bijlsma, Michael F. Wangler, Shinya Yamamoto, Brigid M. Regan, Sharayu Jangam, Bregje W.M. van Bon, Jill A. Rosenfeld, Kendra Hoekzema, Cenying Liu, Shweta U. Dhar, Stefano Sartori, Boris Keren, Hui Guo, Lucia Castiglia, Servi J. C. Stevens, Corrado Romano, Min Long, Tomasz J. Nowakowski, Evan E. Eichler, Jan Maarten Cobben, Alison M. Muir, Lisa Emrick, Quinten Waisfisz, Wenjing Zhao, Jonathan C. Andrews, Ingrid E. Scheffer, Bing Bai, Madelyn A. Gillentine, Paul C. Marcogliese, Fan Xia, Han G. Brunner, Alexandra Afenjar

Publikováno v: Guo, H, Bettella, E, Marcogliese, P C, Zhao, R, Andrews, J C, Nowakowski, T J, Gillentine, M A, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, M H, van Bon, B W, Rinne, T, Stevens, S J C, Kleefstra, T, Brunner, H G, Yntema, H G, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, C E, Romano, C, Castiglia, L, Bottitta, M, Dhar, S U, Erwin, D J, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Nickerson, D A, Bamshad, M J, Mercimek-Andrews, S, Juusola, J, Wilfert, A B, Abou Jamra, R, Büttner, B, Mefford, H C, Muir, A M, Scheffer, I E, Regan, B M, Malone, S, Gecz, J, Cobben, J, Weiss, M M, Waisfisz, Q, Bijlsma, E K, Hoffer, M J V, Ruivenkamp, C A L, Sartori, S, Xia, F, Rosenfeld, J A, Bernier, R A, Wangler, M F, Yamamoto, S, Xia, K, Stegmann, A P A, Bellen, H J, Murgia, A, Eichler, E E & University of Washington Center for Mendelian Genomics 2019, ' Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders ', Nature Communications, vol. 10, no. 1, 4679 . https://doi.org/10.1038/s41467-019-12435-8
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Nature Communications, 10
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature communications, 10(1):4679. Nature Publishing Group
Nature Communications, 10:4679. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Nature Communications, 10(1):4679. Nature Publishing Group UK

Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2—whos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef65fc059436750efb3c5a1fb922c24
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdae

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Autor: Teresa Mattina, Lucia Saccuzzo, Santina Città, Lucia Castiglia, Marco Fichera, Michele Salemi, Corrado Romano, Mirella Vinci, Carmela Scuderi, Eugenia Borgione, Ornella Galesi

In recent years, chromosomal microarray analysis has permitted the discovery of rearrangements underlying several neurodevelopmental disorders and still represents the first diagnostic test for unexplained neurodevelopmental disabilities. Here we rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0e8301b0ee7d9a41a71ef0294f88b4
http://hdl.handle.net/20.500.11769/359702