Article
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Science advances - 10 Mar 2023
Sheppard Sarah E, Bryant Laura, Wickramasekara Rochelle N, Vaccaro Courtney, Robertson Brynn, Hallgren Jodi, Hulen Jason, Watson Cynthia J, Faundes Victor, Duffourd Yannis, Lee Pearl, Simon M Celeste, de la Cruz Xavier, Padilla Natália, Flores-Mendez Marco, Akizu Naiara, Smiler Jacqueline, Pellegrino Da Silva Renata, Li Dong, March Michael, Diaz-Rosado Abdias, Peixoto de Barcelos Isabella, Choa Zhao Xiang, Lim Chin Yan, Dubourg Christèle, Journel Hubert, Demurger Florence, Mulhern Maureen, Akman Cigdem, Lippa Natalie, Andrews Marisa, Baldridge Dustin, Constantino John, van Haeringen Arie, Snoeck-Streef Irina, Chow Penny, Hing Anne, Graham John M, Au Margaret, Faivre Laurence, Shen Wei, Mao Rong, Palumbos Janice, Viskochil David, Gahl William, Tifft Cynthia, Macnamara Ellen, Hauser Natalie, Miller Rebecca, Maffeo Jessica, Afenjar Alexandra, Doummar Diane, Keren Boris, Arn Pamela, Macklin-Mantia Sarah, Meerschaut Ilse, Callewaert Bert, Reis André, Zweier Christiane, Brewer Carole, Saggar Anand, Smeland Marie F, Kumar Ajith, Elmslie Frances, Deshpande Charu, Nizon Mathilde, Cogne Benjamin, van Ierland Yvette, Wilke Martina, van Slegtenhorst Marjon, Koudijs Suzanne, Chen Jin Yun, Dredge David, Pier Danielle, Wortmann Saskia, Kamsteeg Erik-Jan, Koch Johannes, Haynes Devon, Pollack Lynda, Titheradge Hannah, Ranguin Kara, Denommé-Pichon Anne-Sophie, Weber Sacha, Pérez de la Fuente Rubén, Sánchez Del Pozo Jaime, Lezana Rosales Jose Miguel, Joset Pascal, Steindl Katharina, Rauch Anita, Mei Davide, Mari Francesco, Guerrini Renzo, Lespinasse James, Tran Mau-Them Frédéric, Philippe Christophe, Dauriat Benjamin, Raymond Laure, Moutton Sébastien, Cueto-González Anna M, Tan Tiong Yang, Mignot Cyril, Grotto Sarah, Renaldo Florence, Drivas Theodore G, Hennessy Laura, Raper Anna, Parenti Ilaria, Kaiser Frank J, Kuechler Alma, Busk Øyvind L, Islam Lily, Siedlik Jacob A, Henderson Lindsay B, Juusola Jane, Person Richard, Schnur Rhonda E, Vitobello Antonio, Banka Siddharth, Bhoj Elizabeth J, Stessman Holly A F
Abstract excerpt
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were...