Publication: Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
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Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Da Silva, R. P., Li, D., … et al. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. https://doi.org/10.1126/sciadv.ade1463
Abstract
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Abstract
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 previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow g
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Creators (Authors)
- 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
- Da Silva, Renata Pellegrino
- Li, Dong
- March, Michael
- Diaz-Rosado, Abdias
- de Barcelos, Isabella Peixoto
- Choa, Zhao Xiang
- Lim, Chin Yan
- Dubourg, Christèle
- Journel, Hubert
- Demurger, Florence
- Mulhern, Maureen
- Akman, Cigdem
- Lippa, Natalie
- Joset, Pascal
- Rauch, Anita
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Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Da Silva, R. P., Li, D., … et al. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. https://doi.org/10.1126/sciadv.ade1463
