@article{01JQ9CA4G9Q21SF8963QPEEFSX,
  abstract     = {{Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, mac-rocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this dis-order, 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 previously not associ-ated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type litter -mates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B- related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.}},
  articleno    = {{eade1463}},
  author       = {{Sheppard, Sarah E. and Bryant, Laura and Wickramasekara, Rochelle N. and Vaccaro, Courtney and Robertson, Brynn and Hallgren, Jodi and Hulen, Jason and Watson, Cynthia J. and Faundes, Victor and Duffourd, Yannis and Lee, Pearl and Simon, M. Celeste and de la Cruz, Xavier and Padilla, Natalia and Flores-Mendez, Marco and Akizu, Naiara and Smiler, Jacqueline and Da Silva, Renata Pellegrino and Li, Dong and March, Michael and Diaz-Rosado, Abdias and de Barcelos, Isabella Peixoto and Choa, Zhao Xiang and Lim, Chin Yan and Dubourg, Christele and Journel, Hubert and Demurger, Florence and Mulhern, Maureen and Akman, Cigdem and Lippa, Natalle and Andrews, Marisa and Baldridge, Dustin and Constantino, John and Rauch, Anita and van Haeingen, Arie and Snoeck-Streef, Irina and Chow, Penny and Hing, Anne and Graham, John M. and Au, Margaret and Falvre, Laurence and Shen, Wel and Mao, Rong and Palumbos, Janice and Viskochil, David and Gahl, William and Tifft, Cynthia and Macnamara, Ellen and Hauser, Natalie and Miller, Rebecca and Maffeo, Jessica and Afenjar, Alexandra and Doummar, Diane and Keren, Boris and Arn, Pamela and Mackllin-Mantla, Sarah and Meerschaut, Ilse and Callewaert, Bert and Rels, Andre and Zweler, Christiane and Brewer, Carole and Saggar, Anand and Smeland, Marie F. and Kumar, Ajith and Elmslie, Frances and Deshpande, Charu and Nizon, Mathilde and Cogne, Benjamin and van Ierland, Yvette and Wilke, Martina and van Slegtenhorst, Marjon and Koudijs, Suzanne and Chen, Jin Yun and Dredge, David and Pler, Danielle and Wortmann, Saskia and Kamsteeg, Erik-Jann and Koch, Johannes and Haynes, Devon and Pollack, Lynda and Titheradge, Hannah and Ranguin, Kara and Denomme-Pichon, Anne-Sophie and Weber, Sacha and de la Fuente, Ruben Perez and del Pozo, Jaime Sanchez and Rosales, Jose Miguel Lezana and Joset, Pascal and Steindl, Katharina and Rauch, Ani and Mei, Davide and Mari, Francesco and Guerrini, Renzo and Lespinasse, James and Mau-Then, Frederic Tran and Philippe, Christophe and Dauriat, Benjamin and Raymond, Laure and Moutton, Sebastien and Cueto-Gonzalez, Anna M. and Tan, Tiong Yang and Mignot, Cyril and Grotto, Sarah and Renaldo, Florence and Drivas, Theodore G. and Hennessy, Laura and Raper, Anna and Parenti, Ilaria and Kaiser, Frank J. and Kuechler, Alma and Busk, Oyvind L. and Islam, Lily and Siedlik, Jacob A. and Henderson, Lindsay B. and Juusola, Jane and Person, Richard and Schnur, Rhonda E. and Vitobello, Antonio and Banka, Siddharth and Bhoj, Elizabeth J. and Stessman, Holly A. F.}},
  issn         = {{2375-2548}},
  journal      = {{SCIENCE ADVANCES}},
  keywords     = {{HISTONE,EXPRESSION,AUTISM,GENE,IDENTIFICATION,MUTATIONS,LANDSCAPE,GENOME,TOOL}},
  language     = {{eng}},
  number       = {{10}},
  pages        = {{16}},
  title        = {{Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice}},
  url          = {{http://doi.org/10.1126/sciadv.ade1463}},
  volume       = {{9}},
  year         = {{2023}},
}

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