In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

Gicquel, Christine; Gaston, Véronique; Mandelbaum, J.; Siffroi, Jean‐Pierre; Flahault, Antoine; Bouc, Yves Le

doi:10.1086/374824

Cited by 499 publications

(317 citation statements)

References 40 publications

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“…39 All were sporadic cases with loss of imprinting of differentially methylated region (KvDMR1) within the KCNQ1. 40 In the other study, four of 37 cases with BWS was born by IVF, while IVF was identified as the method of conception in only one of 148 matched controls. 41 Angelman syndrome and retinoblastoma are also reportedly associated with IVF.…”

Section: Mitochondrial Dna (Mtdna) Heteroplasmymentioning

confidence: 93%

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

et al. 2005

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Classical twin research focused on differentiating genetic factors from environmental factors by comparing the concordance rate between monozygotic (MZ) and dizygotic twins. On the other hand, recent twin research tries to identify genetic or epigenetic differences between MZ twins discordant for mental disorders. There are a number of reports of MZ twins discordant for genetic disorders caused by genetic or epigenetic differences of known pathogenic genes. In the case of mental disorder research, for which the causative gene has not been established yet, we are trying to identify the 'pathogenic gene' by comprehensive analysis of genetic or epigenetic difference between discordant MZ twins. To date, no compelling evidence suggesting such difference between MZ twins has been reported. However, if the genetic or epigenetic difference responsible for the discordant phenotype is found, it will have impact on the biology of mental disorder, in which few conclusive molecular genetic evidences have been obtained.

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Section: Mitochondrial Dna (Mtdna) Heteroplasmymentioning

confidence: 93%

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

et al. 2005

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“…89,90 A number of studies report that BWS and AS cases are overrepresented in children born through ART. 42,[91][92][93][94][95] However, other studies did not find evidence for increased risk for these diseases, 96,97 and the relationship between ART and imprinting disorders remains to be established. 98,99 Recently, it was reported that the expression state of the imprinted Dlk1-Dio3 cluster on mouse chromosome 12 is often altered in iPS cells.…”

Section: Molar Pregnancy Infertility Assisted Reproductive Technolomentioning

confidence: 97%

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Tomizawa

Sasaki

2012

J Hum Genet

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Genomic imprinting is an epigenetic gene-marking phenomenon that occurs in the germline, whereby genes are expressed from only one of the two parental copies in embryos and adults. Imprinting is essential for normal mammalian development and its disruption can cause various developmental defects and diseases. The process of imprinting in the germline involves DNA methylation of the imprint control regions (ICRs), and resulting parental-specific methylation imprints are maintained in the zygote and act as the marks controlling imprinted gene expression. Recent studies in mice have revealed new factors involved in imprint establishment during gametogenesis and maintenance during early development. Clinical studies have identified cases of imprinting disorders where involvement of factors shared by multiple ICRs for establishment or maintenance is suspected. These include Beckwith-Wiedemann syndrome, transient neonatal diabetes, Silver-Russell syndrome and others. More severe disruptions can lead to recurrent molar pregnancy, miscarriage or infertility. Imprinting defects may also occur during assisted reproductive technology or cell reprogramming. In this review, we summarize our current knowledge on the mechanisms of imprint establishment and maintenance, and discuss the relationship with various human disorders.

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“…3 Several reports have supported the idea that artificial reproductive techniques (ARTs) would favour the acquisition of imprinting errors. [4][5][6][7][8] Epigenetic abnormalities in ART could be related to parental infertility, corresponding to imprinting errors in the gametes, transmitted at fertilisation, or to in vitro manipulation of gametes and embryos. 9 Therefore, looking for imprinting defects in embryos that failed to develop normally and in the gametes would provide information on whether unsuitable imprint in the gametes could be transmitted and associated with developmental arrest.…”

Section: Introductionmentioning

confidence: 99%

Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes

et al. 2011

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ART is suspected to generate increased imprinting errors in the lineage. Following an intra cytoplasmic sperm injection (ICSI) procedure, a certain number of embryos fail to develop normally and imprinting disorders may be associated to the developmental failure. To evaluate this hypothesis, we analysed the methylation profile of H19DMR, a paternally imprinting control region, in high-graded blastocysts, in embryos showing developmental anomalies, in the matching sperm and in oocytes of the concerned couples when they were available. Significant hypomethylation of the paternal allele was observed in half of the embryos, independently of the stage at which they were arrested (morula, compacted morula, pre blastocyst or BC-graded blastocysts). Conversely, some embryos showed significant methylation on the maternal allele, whereas few others showed both hypomethylation of the paternal allele and abnormal methylation of the maternal allele. The matching sperm at the origin of the embryos exhibited normal methylated H19 patterns. Thus, hypomethylation of the paternal allele in the embryos does not seem inherited from the sperm but likely reflects instability of the imprint during the demethylating process, which occurred in the early embryo. Analysis of a few oocytes suggests that the defect in erasure of the paternal imprint in the maternal germ line may be responsible for the residual methylation of the maternal allele in some embryos. None of these imprinting alterations could be related to a particular stage of developmental arrest; compared with high-grade blastocysts, embryos with developmental failure are more likely to have abnormal imprinting at H19 (Po0.05).

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In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

Cited by 499 publications

References 40 publications

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes

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