Citations 2
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant, Laura , Li, Dong , Cox, Samuel G., Wilson, Khadija , Janssen, Kevin A. , March, Michael , Sherr, Elliott H. , Fregeau, Brieana, Wierenga, Klaas J. , Wadley, Alexandrea, Mancini, Grazia M.S., Powell‐Hamilton, Nina , Kamp, Jiddeke van de, Grebe, Theresa A., Ross, Alison , Crawford, Heather P., Powis, Zöe , Cho, Megan T. , Willing, Marcia, Schot, Rachel , Afenjar, Alexandra , Lessel, Davor , Wagner, Matias , Klopstock, Thomas , Winkelmann, Juliane , Retterer, Kyle , Schuette, Jane L., Innis, Jeffrey W. , Pizzino, Amy , Lüttgen, Sabine, Denecke, Jonas , Strom, Tim M., Monaghan, Kristin G. , Study, DDD, Yuan, Zuo‐Fei , Dubbs, Holly , Bend, Renee, Lee, Jennifer A. , Lyons, Michael J. , Hoefele, Julia , Günthner, Roman , Keren, Boris , Radtke, Kelly, Sherbini, Omar , Mrokse, Cameron, Helbig, Katherine L. , Odent, Sylvie , Mercier, Sandra , Küry, Sébastien , Redon, Richard , Reinson, Karit , Wojcik, Monica H. , Õunap, Katrin , Ilves, Pilvi , Innes, A. Micheil , Kernohan, Kristin D. , Costain, Gregory , Zackai, Elaine H. , Kitson, Hilary, Study, CAUSES, Martin, Martin G., Martínez-Agosto, Julián A. , Network, Undiagnosed Diseases, Nelson, Stan F., Palmer, Christina G.S. , Papp, Jeanette C. , Parker, Neil H., Wan, Jijun , Yoon, Amanda J., Zheng, Allison, Carli, Diana , Brusco, Alfredo , Tartaglia, Marco , Thomas, Jennifer Muncy, Weiss, Marjan M. , Gotway, Garrett , Stuurman, Kyra E. , Thompson, Michelle L. , Stumpel, Constance T. R. M., Stevens, Servi J.C. , Stegmann, Alexander P.A. , Tveten, Kristian , Vøllo, Arve, Prescott, Trine , Fagerberg, Christina , Laulund, Lone Walentin , Larsen, Martin J. , Byler, Melissa, Lebel, Robert Roger, Dean, Joy, Mercimek‐Andrews, Saadet , Neira, Juanita, Allen, Margot I. Van, Sellars, Elizabeth A. , Louie, Raymond J. , Cathey, Sara , Brokamp, Elly , Héron, Delphine, Snyder, Molly, Simon, Celeste, Cruz, Xavier de la , Padilla, Natàlia , García, Benjamin A. , Håkonarson, Håkon , Bhoj, Elizabeth , Nelson, Stanley F. , Sherr, Elliott , Dean, John , Lessel, Davor , Klopstock, Thomas , Kury, Sebastien , Brusco, Alfredo , McWalter, Kirsty , Stevens, Servi J C , Crump, J Gage , Hakonarson, Hakon , Bhoj, Elizabeth J , Tartaglia, Marco , Li, Dong , Wagner, Matias , Redon, Richard , Õunap, Katrin , de la Cruz, Xavier , Padilla, Natália , March, Michael , Hoefele, Julia , Marchione, Dylan M. , Joiner, Evan F. , Lee, Pearl , Nair, Divya, Kamp, Jiddeke M. van de , Manwaring, Linda P. , Nava, Caroline , Catarino, Claudia B. , Monaghan, Kristin G. , Study, DDD, Reutter, Heiko , Radtke, Kelly , Cogné, Benjamin , Bezieau, Stéphane , Besnard, Thomas , Meyn, M Stephen , Chitayat, David A. , Lehman, Anna , Study, CAUSES, Network, Undiagnosed Diseases, Sinsheimer, Janet S. , Vilain, Eric J. N. , Brimble, Elise , Ferrero, Giovanni Battista , Radio, Francesca Clementina , Barresi, Sabina , Umaña, Luis Alfredo , Hurst, Anna , Vergano, Samantha A. Schrier , Norman, Jennifer, Longo, Nicola , Vanderver, Adeline , Chung, Wendy K.
Science Advances | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
Crotti, Lia , Spazzolini, Carla , Tester, David J. , Ghidoni, Alice , Baruteau, Alban‐Elouen , Beckmann, Britt Maria , Behr, Elijah R. , Bennett, Jeffrey S. , Bezzina, Connie R. , Bhuiyan, Zahurul A. , Çeliker, Alpay, Cerrone, Marina , Etheridge, Susan P. , Fatah, Meena , García‐Pavía, Pablo , Hamilton, Robert M. , Al‐Hassnan, Zuhair N. , Horie, Minoru , Jiménez‐Jáimez, Juan , Kanter, Ronald J. , Kaski, Juan Pablo , Kotta, Maria‐Christina , Lahrouchi, Najim , Makita, Naomasa , Norrish, Gabrielle , Odland, Hans Henrik , Ohno, Seiko , Papagiannis, John , Parati, Gianfranco , Sekarski, Nicole , Tveten, Kristian , Vatta, Matteo , Wilde, Arthur A.M. , Wojciak, Julianne, Ackerman, Michael J. , Crotti, Lia , Makita, Naomasa , Horie, Minoru , Behr, Elijah Raphael , Kotta, Maria-Christina , Baruteau, Alban-Elouen , Garcia-Pavia, Pablo , Cerrone, Marina , Hamilton, Robert , Kaski, Juan P , Odland, Hans H , Sekarski, Nicole , Bezzina, Connie R , Spazzolini, Carla , Çeliker, Alpay , Dagradi, Federica , Ferrari, Gaetano Maria De , Al-Ghamdi, Saleh, Ohno, Seiko , Webster, Gregory , George, Alfred L. , Schwartz, Peter J.
European Heart Journal | April 29, 2019 | Volume: 40 | Issue: 35 | Pages: 2964-2975
Abstract Aims Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1–3) that encode identical calmodulin proteins. We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history, clinical features, and response to therapy of patients with a CALM-mediated arrhythmia syndrome. Methods and results A dedicated Case Report File was created to collect demographic, clinical, and genetic information. ICalmR has enrolled 74 subjects, with a variant in the CALM1 (n = 36), CALM2 (n = 23), or CALM3 (n = 15) genes. Sixty-four (86.5%) were symptomatic and the 10-year cumulative mortality was 27%. The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%). CALM-LQTS patients have extremely prolonged QTc intervals (594 ± 73 ms), high prevalence (78%) of life-threatening arrhythmias with median age at onset of 1.5 years [interquartile range (IQR) 0.1–5.5 years] and poor response to therapies. Most electrocardiograms (ECGs) show late onset peaked T waves. All CALM-CPVT patients were symptomatic with median age of onset of 6.0 years (IQR 3.0–8.5 years). Basal ECG frequently shows prominent U waves. Other CALM-related phenotypes are idiopathic ventricular fibrillation (IVF, n = 7), sudden unexplained death (SUD, n = 4), overlapping features of CPVT/LQTS (n = 3), and predominant neurological phenotype (n = 1). Cardiac structural abnormalities and neurological features were present in 18 and 13 patients, respectively. Conclusion Calmodulinopathies are largely characterized by adrenergically-induced life-threatening arrhythmias. Available therapies are disquietingly insufficient, especially in CALM-LQTS. Combination therapy with drugs, sympathectomy, and devices should be considered.