Article
Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits.
Cell reports - 28 Nov 2023
Beard Diana C, Zhang Xiyun, Wu Dennis Y, Martin Jenna R, Erickson Alyssa, Boua Jane Valeriane, Hamagami Nicole, Swift Raylynn G, McCullough Katherine B, Ge Xia, Bell-Hensley Austin, Zheng Hongjun, Palmer Cory W, Fuhler Nicole A, Lawrence Austin B, Hill Cheryl A, Papouin Thomas, Noguchi Kevin K, McAlinden Audrey, Garbow Joel R, Dougherty Joseph D, Maloney Susan E, Gabel Harrison W
Abstract excerpt
Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct alleles drive variable disease presentation is not well understood. Here, we investigate missense mutations in DNA methyltransferase 3A (DNMT3A), a DNA methyltransferase associated with overgrowth, intellectual disability, and autism, to uncover molecular...
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