Publication: De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
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Anderson, E. N., Drukewitz, S. H., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O’Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., CHATRON, N., MONIN, P., Drunat, S., Vial, Y., Latypova, X., Levy, J., … Ivanovski, I. (2026). De novo variants in KDM2A cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics, 113, 100–116. https://doi.org/10.1016/j.ajhg.2025.12.004
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Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A, a lysine demethylase crucial for embryonic development, in 18 individuals with developmental delays and/or intellectual disabilities. The severity ranged from learning disabilities to severe intellectual disability. Other core symptoms included feeding difficulties; growth issues, such as intrauterine growth restriction, short stature, and microc
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Anderson, E. N., Drukewitz, S. H., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O’Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., CHATRON, N., MONIN, P., Drunat, S., Vial, Y., Latypova, X., Levy, J., … Ivanovski, I. (2026). De novo variants in KDM2A cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics, 113, 100–116. https://doi.org/10.1016/j.ajhg.2025.12.004
