The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Rossignol, Sylvie; Steunou, Virginie; Chalas, Céline; Kerjean, Antoine; Rigolet, Muriel; Viegas‐Péquignot, Evani; Jouannet, Pierre; Bouc, Yves Le; Gicquel, Christine

doi:10.1136/jmg.2006.042135

Cited by 210 publications

(200 citation statements)

References 31 publications

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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%

“…41 Notably, it was reported that 20-24% of BWS cases are hypomethylated at multiple maternally imprinted loci other than the KCNQ1OT1 ICR (Table 1). [42][43][44] Moreover, a homozygous mutation in a nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain-containing (NLRP) family gene, NLRP2 was found in a mother of two BWS children with the KCNQ1OT1 ICR hypomethylation, and one of the patients showed a loss of methylation at another maternally methylated MEST ICR. 45 This implies a role for NLRP2 in the establishment and/or maintenance of methylation imprints at multiple ICRs.…”

Section: Childhood Diseases Associated With Imprint Establishment Ormentioning

confidence: 99%

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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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Section: Molar Pregnancy Infertility Assisted Reproductive Technolomentioning

confidence: 97%

Section: Childhood Diseases Associated With Imprint Establishment Ormentioning

confidence: 99%

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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“…Previous studies have revealed that children conceived by ART do not show a higher degree of imprint variability and do not have a higher risk for imprinting disorders (17,34), which were consistent with our results. Rossignol et al suggested that an epigenetic imprinting defect of patients with BWS is not restricted to the 11p15 region (KCNQ1OT1 and H19), and the involvement of other loci (PEG1/MEST, SNRPN) is also not restricted to patients with BWS (14). Furthermore, several studies have suggested an association between TNDM and disturbance of TNDM DMR (26), human tumors and imprinting defects of MEG3 and XIST (25,35).…”

Section: Discussionmentioning

confidence: 99%

“…The loss of maternal DNA methylation at the DMR of KCNQ1 represents the most frequent alternation in BWS patients (11)(12)(13). Moreover, epimutations at other DMRs in ART children resulting in BWS, such as the mesoderm-specific transcript (MEST), or small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) have also been reported (14).…”

Section: Introductionmentioning

confidence: 99%

Study of DNA methylation patterns of imprinted genes in children born after assisted reproductive technologies reveals no imprinting errors: A pilot study

Zheng

Shi

Wang

et al. 2011

Experimental and Therapeutic Medicine

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Abstract. Assisted reproductive technology (ART) includingin vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) have been shown to be associated with abnormal genomic imprinting, thus increasing the incidence of imprinting disorders such as Beckwith-Wiedemann syndrome (BWS) and Angelman syndrome (AS) in ART-conceived children. Furthermore, a recent study described abnormal DNA methylation in clinically normal children conceived by ART. However, data from different studies are conflicting or inconclusive. This study examined DNA methylation patterns of multiple imprinted genes in children born after ART to primarily evaluate the impact of ART on genomic imprinting. A total of 101 newborns conceived by ART (40 ICSI and 61 IVF) and 60 naturally conceived newborns were involved in our study. After obtaining the approval of the Institutional Ethics Committee, umbilical cord blood was collected from each infant. Genomic DNA was isolated from each blood sample and treated using sodium bisulfite. Subsequently, using methylation-specific PCR (MS-PCR), we analyzed six differentially methylated regions (DMRs) including KvDMR1, SNRPN, MEST, MEG3, TNDM and XIST. Meanwhile, information regarding twin pregnancies, gestational age, and birth weight of the neonates was documented. None of the cases presented with phenotypic abnormalities. Children conceived by ART were more likely to have low birth weight and to be born before term, compared with children conceived spontaneously. However, 7 months to 3 years of clinical follow-up showed that none of the children had clinical symptoms of any imprinting diseases. Furthermore, the MS-PCR results showed that all 161 children had normal DNA methylation patterns at six DMRs despite the different mode of conception. Our data did not indicate a higher risk of DNA-methylation defects in children born after ART. However, further studies using quantitative methods are needed to confirm these results.

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“…1,2 Recently, mechanisms influencing imprinting disorders in trans have been identified. Hypomethylation of multiple imprinted loci (HIL) is described in different imprinting syndromes including transient neonatal diabetes mellitus type 1 (TNDM1; MIM 601410), 4 BWS, [5][6][7] Silver-Russell syndrome (SRS; MIM 180860)/growth restriction, 8,9 and in a single patient with the clinical phenotype of BWS and Prader-Willi syndrome. 10 Recessive ZFP57 mutations were identified in more than half of the TNDM1 cases displaying HIL.…”

Section: Introductionmentioning

confidence: 99%

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

et al. 2011

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Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.

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The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Cited by 210 publications

References 31 publications

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

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

Study of DNA methylation patterns of imprinted genes in children born after assisted reproductive technologies reveals no imprinting errors: A pilot study

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

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