The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
Open accessAbstract
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and result from epimutations at either of the two 11p15.5 imprinting centres (IC1 and IC2). However, rare familial cases may be associated with germline 11p15.5 deletions causing abnormal imprinting in cis. We report a family with BWS and an IC2 epimutation in which affected siblings had inherited different parental 11p15.5 alleles excluding an in cis mechanism. Using a positional-candidate gene approach, we found that the mother was homozygous for a frameshift mutation in exon 6 of NLRP2. While germline mutations in NLRP7 have previously been associated with familial hydatidiform mole, this is the first description of NLRP2 mutation in human disease and the first report of a trans mechanism for disordered imprinting in BWS. These observations are consistent with the hypothesis that NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans.
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Hoffman, H. M., Mueller, J. L., Broide, D. H., Wanderer, A. A., & Kolodner, R. D. (2001) · Nature Genetics · doi:10.1038/ng756 · Cited by 1,682
DeBaun, M. R., Niemitz, E. L., & Feinberg, A. P. (2003) · The American Journal of Human Genetics · doi:10.1086/346031 · Cited by 916
A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal Imprints
Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., & Ferguson-Smith, A. C. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.08.014 · Cited by 647
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART): Table 1
Maher, E. R., Brueton, L. A., Bowdin, S. C., Luharia, A., Cooper, W., Cole, T. R., Macdonald, F., Sampson, J. R., Barratt, C. L., Reik, W., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.1.62 · Cited by 576
Self-citationMackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., et al. (2008) · Nature Genetics · doi:10.1038/ng.187 · Cited by 529
Gicquel, C., Gaston, V., Mandelbaum, J., Siffroi, J.-P., Flahault, A., & Le Bouc, Y. (2003) · The American Journal of Human Genetics · doi:10.1086/374824 · Cited by 521
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
Murdoch, S., Djuric, U., Mazhar, B., Seoud, M., Khan, R., Kuick, R., Bagga, R., Kircheisen, R., Ao, A., Ratti, B., et al. (2006) · Nature Genetics · doi:10.1038/ng1740 · Cited by 489
Smilinich, N. J., Day, C. D., Fitzpatrick, G. V., Caldwell, G. M., Lossie, A. C., Cooper, P. R., Smallwood, A. C., Joyce, J. A., Schofield, P. N., Reik, W., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.14.8064 · Cited by 408
Self-citationMutations in NALP12 cause hereditary periodic fever syndromes
Jéru, I., Duquesnoy, P., Fernandes-Alnemri, T., Cochet, E., Yu, J. W., Lackmy-Port-Lis, M., Grimprel, E., Landman-Parker, J., Hentgen, V., Marlin, S., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708616105 · Cited by 373
Lee, M. P., DeBaun, M. R., Mitsuya, K., Galonek, H. L., Brandenburg, S., Oshimura, M., & Feinberg, A. P. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.9.5203 · Cited by 358
Cited by
Schroder, K., & Tschopp, J. (2010) · Cell · doi:10.1016/j.cell.2010.01.040 · Cited by 5,475
Bartolomei, M. S., & Ferguson-Smith, A. C. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a002592 · Cited by 518
De novo DNA methylation: a germ cell perspective
Smallwood, S. A., & Kelsey, G. (2012) · Trends in Genetics · doi:10.1016/j.tig.2011.09.004 · Cited by 448
NOD-Like Receptors: Versatile Cytosolic Sentinels
Motta, V., Soares, F., Sun, T., & Philpott, D. J. (2015) · Physiological Reviews · doi:10.1152/physrev.00009.2014 · Cited by 353
NLR functions beyond pathogen recognition
Kufer, T. A., & Sansonetti, P. J. (2011) · Nature Immunology · doi:10.1038/ni.1985 · Cited by 279
Metadata
- Authors
- Meyer, E., Lim, D., Pasha, S., Tee, L. J., Rahman, F., Yates, J. R. W., Woods, C. G., Reik, W., & Maher, E. R.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-03-20
- Volume
- 5
- Issue
- 3
- Pages
- e1000423
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W1977061789
- Cited by
- 318
- References
- 26
- FWCI
- 17.29
- Type
- journal article
- Language
- en
- Open access
- gold
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- Meyer, E., Lim, D., Pasha, S., Tee, L. J., Rahman, F., Yates, J. R. W., Woods, C. G., Reik, W., & Maher, E. R. (2009). Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome). PLoS Genetics. https://doi.org/10.1371/journal.pgen.1000423
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