The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Open accessAbstract
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent trios and detected two de novo DNMT3A mutations. We identified 11 additional de novo mutations by sequencing DNMT3A in a further 142 individuals with overgrowth. The mutations alter residues in functional DNMT3A domains, and protein modeling suggests that they interfere with domain-domain interactions and histone binding. Similar mutations were not present in 1,000 UK population controls (13/152 cases versus 0/1,000 controls; P < 0.0001). Mutation carriers had a distinctive facial appearance, intellectual disability and greater height. DNMT3A encodes a DNA methyltransferase essential for establishing methylation during embryogenesis and is commonly somatically mutated in acute myeloid leukemia. Thus, DNMT3A joins an emerging group of epigenetic DNA- and histone-modifying genes associated with both developmental growth disorders and hematological malignancies.
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The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape
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Genome-wide characteristics of de novo mutations in autism
Yuen, R. K., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., et al. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2016.27 · Cited by 216
The interplay between DNA and histone methylation: molecular mechanisms and disease implications
Li, Y., Chen, X., & Lu, C. (2021) · The EMBO Reports · doi:10.15252/embr.202051803 · Cited by 223
Metadata
- Authors
- Childhood Overgrowth Consortium, Tatton-Brown, K., Seal, S., Ruark, E., Harmer, J., Ramsay, E., del Vecchio Duarte, S., Zachariou, A., Hanks, S., O'Brien, E., Aksglaede, L., Baralle, D., Dabir, T., Gener, B., Goudie, D., Homfray, T., Kumar, A., Pilz, D. T., Selicorni, A., Temple, I. K., Van Maldergem, L., Yachelevich, N., van Montfort, R., & Rahman, N.
- Venue
- Nature Genetics
- Published
- 2014-03-09
- Volume
- 46
- Issue
- 4
- Pages
- 385-388
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2043267753
- Cited by
- 353
- References
- 28
- FWCI
- 16.25
- Type
- journal article
- Language
- en
- Open access
- green
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- Childhood Overgrowth Consortium, Tatton-Brown, K., Seal, S., Ruark, E., Harmer, J., Ramsay, E., del Vecchio Duarte, S., Zachariou, A., Hanks, S., O'Brien, E., Aksglaede, L., Baralle, D., Dabir, T., Gener, B., Goudie, D., Homfray, T., Kumar, A., Pilz, D. T., Selicorni, A., . . . Rahman, N. (2014). Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nature Genetics. https://doi.org/10.1038/ng.2917
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