Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Autor: Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

Publikováno v: HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)

Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe

Externí odkaz: https://doaj.org/article/be0b7360900245738bb5fa3eedf88913

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Autor: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are

Externí odkaz: https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1

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

The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study

Autor: Yil Severijns, Maartje W. F. Heijmans, Christine E. M. de Die‐Smulders, Emilia K. Bijlsma, Nicole Corsten‐Janssen, Sara J. R. Joosten, Sander M. J. van Kuijk, Klaske D. Lichtenbelt, Cecile P. E. Ottenheim, Kyra E. Stuurman, Gita M. B. Tan‐Sindhunata, Hein de Vries, Liesbeth A. D. M. van Osch

Publikováno v: Severijns, Y, Heijmans, M W F, de Die-Smulders, C E M, Bijlsma, EK, Corsten-Janssen, N, Joosten, S J R, van Kuijk, S M J, Lichtenbelt, K D, Ottenheim, C P E, Stuurman, K E, Tan-Sindhunata, G M B, de Vries, H & van Osch, L A D M 2022, ' The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples—A pilot study ', Journal of Genetic Counseling . https://doi.org/10.1002/jgc4.1631
Journal of Genetic Counseling, 32, 153-65
Journal of Genetic Counseling, 32(1), 153-165. Human Sciences Press/Kluwer Academic
Journal of Genetic Counseling. WILEY
Journal of Genetic Counseling
Journal of Genetic Counseling. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 32, 1, pp. 153-65
Journal of Genetic Counseling. Wiley
Journal of genetic counseling, 32(1). SPRINGER

Couples at risk of transmitting a genetic disease to their offspring may experience doubts about their reproductive options. This study examines the effects of an online decision aid (DA) on the (joint) reproductive decision-making process of couples

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a197f3a14cbf5646f18f0a38f716385c
https://doi.org/10.1002/jgc4.1631

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

Autor: Mayke Oosterloo, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A.C. Roos

Publikováno v: Brain Sciences, Vol 10, Iss 3, p 155 (2020)

Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis. Eligible participants were parents and caregivers of juv

Externí odkaz: https://doaj.org/article/1986f40ef8f748c58d848ab0abd0f3c2