The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
Abstract
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5. Most BWS cases are sporadic and result from imprinting errors (epimutations) involving either of the two 11p15.5 imprinting control regions (IC1 and IC2). Previously, we and other reported an association between sporadic BWS and assisted reproductive technologies (ARTs). METHODS: In this study, we compared the clinical phenotype and molecular features of ART (IVF and ICSI) and non-ART children with sporadic BWS. A total of 25 patients with post-ART BWS were ascertained (12 after IVF and 13 after ICSI). RESULTS: Molecular genetic analysis revealed an IC2 epimutations (KvDMR1 loss of methylation) in 24 of the 25 children tested. Comparison of clinical features of children with post-ART BWS to those with non-ART BWS and IC2 defects revealed a lower frequency of exomphalos (43 versus 69%, P = 0.029) and a higher risk of neoplasia (two cases, P = 0.0014). As loss of methylation at imprinting control regions other than 11p15.5 might modify the phenotype of BWS patients with IC2 epimutations, we investigated differentially methylated regions (DMRs) at 6q24, 7q32 and 15q13 in post-ART and non-ART BWS IC2 cases (n = 55). Loss of maternal allele methylation at these DMRs occurred in 37.5% of ART and 6.4% of non-ART BWS IC2 defect cases. Thus, more generalized DMR hypomethylation is more frequent, but not exclusive to post-ART BWS. CONCLUSIONS: These findings provide further evidence that ART may be associated with disturbed normal genomic imprinting in a subset of children.
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Cites
DeBaun, M. R., Niemitz, E. L., & Feinberg, A. P. (2003) · The American Journal of Human Genetics · doi:10.1086/346031 · Cited by 916
Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture
Young, L. E., Fernandes, K., McEvoy, T. G., Butterwith, S. C., Gutierrez, C. G., Carolan, C., Broadbent, P. J., Robinson, J. J., Wilmut, I., & Sinclair, K. D. (2001) · Nature Genetics · doi:10.1038/84769 · Cited by 829
Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects
Cox, G. F., Bürger, J., Lip, V., Mau, U. A., Sperling, K., Wu, B.-L., & Horsthemke, B. (2002) · The American Journal of Human Genetics · doi:10.1086/341096 · Cited by 704
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-citationKhosla, S., Dean, W., Brown, D., Reik, W., & Feil, R. (2001) · Biology of Reproduction · doi:10.1095/biolreprod64.3.918 · Cited by 559
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
Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study
Halliday, J., Oke, K., Breheny, S., Algar, E., & J. Amor, D. (2004) · The American Journal of Human Genetics · doi:10.1086/423902 · Cited by 430
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-citationDean, W., Bowden, L., Aitchison, A., Klose, J., Moore, T., Meneses, J. J., Reik, W., & Feil, R. (1998) · Development · doi:10.1242/dev.125.12.2273 · Cited by 374
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Cited by
Genomic imprinting: the emergence of an epigenetic paradigm
Ferguson-Smith, A. C. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3032 · Cited by 838
Market-Velker, B. A., Zhang, L., Magri, L. S., Bonvissuto, A. C., & Mann, M. R. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddp465 · Cited by 332
Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
Meyer, E., Lim, D., Pasha, S., Tee, L. J., Rahman, F., Yates, J. R. W., Woods, C. G., Reik, W., & Maher, E. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000423 · Cited by 318
Self-citationDNA Methylation: a form of epigenetic control of gene expression
Lim, D. H. K., & Maher, E. R. (2010) · The Obstetrician & Gynaecologist · doi:10.1576/toag.12.1.037.27556 · Cited by 155
Self-citationArgyraki, M., Damdimopoulou, P., Chatzimeletiou, K., Grimbizis, G. F., Tarlatzis, B. C., Syrrou, M., & Lambropoulos, A. (2019) · Human Reproduction Update · doi:10.1093/humupd/dmz025 · Cited by 86
Metadata
- Authors
- Lim, D., Bowdin, S. C., Tee, L., Kirby, G. A., Blair, E., Fryer, A., Lam, W., Oley, C., Cole, T., Brueton, L. A., Reik, W., Macdonald, F., & Maher, E. R.
- Venue
- Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-12-04
- Volume
- 24
- Issue
- 3
- Pages
- 741-747
- ISSN
- 0268-1161 (ISSN-L)
- 1460-2350
- OpenAlex
- W2035028401
- Cited by
- 274
- References
- 29
- FWCI
- 16.17
- Type
- journal article
- Language
- en
- Open access
- closed
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