P601: Clinical utility of MS-MLPA for the diagnosis of Prader-Willi/Angelman syndrome: The GGC experience

Autor: Xuemei Shi, Robin Fletcher, Jiyong Wang, Machenzie Lally, Sydney Posey, Michael Friez, Jennifer Lee, Raymond Caylor, Fatima Abidi

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101507- (2024)

Externí odkaz: https://doaj.org/article/9b46558d133c43f784dbc3dd6b6b0b66

PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports

Autor: Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

Publikováno v: Frontiers in Psychiatry, Vol 14 (2024)

IntroductionX-linked PTCHD1 gene has recently been pointed as one of the most interesting candidates for involvement in neurodevelopmental disorders (NDs), such as intellectual disability (ID) and autism spectrum disorder (ASD). PTCHD1 encodes the pa

Externí odkaz: https://doaj.org/article/ee458b1a775b47f7912a33fe19be964c

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Autor: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi

Externí odkaz: https://doaj.org/article/47a113198d5649e88315ddec99f2067f

P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey

Autor: Matthew Tedder, Jessica Cooley Coleman, Anna Childers, Jennifer Kerkhof, Raymond Louie, Jennifer Lee, Michael Friez, Bekim Sadikovic, David Everman, Richard Rogers, Raymond Caylor

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100616- (2023)

Externí odkaz: https://doaj.org/article/41b97a149c514fe2b6bf26e1a7c09949

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Autor: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

Publikováno v: HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)

Summary: Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of geno

Externí odkaz: https://doaj.org/article/625f01b427784d528fd75cff511b4125