Publication: Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
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Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., et al, Bachmann-Gagescu, R., & Rauch, A. (2023). Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2), 215–227. https://doi.org/10.1016/j.ajhg.2022.12.007
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Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering variation in the transcriptional coregulator ZMYM3, located on the X chromosome. Most (n = 24) individuals were males, 17 of which have a maternally inherited variant; six individuals (4 male, 2 female) harbor de novo variants. Overlapping features included developmental delay, intellectua
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Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., et al, Bachmann-Gagescu, R., & Rauch, A. (2023). Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2), 215–227. https://doi.org/10.1016/j.ajhg.2022.12.007
