Monozygotic twins discordant for the Russell‐Silver syndrome

Samn, Michael; Lewis, Kathleen; Blumberg, Bruce

doi:10.1002/ajmg.1320370424

Cited by 34 publications

(25 citation statements)

References 10 publications

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“…(3) In agreement with the hypothesis that the event could be an early embryonic one, several studies report monozygotic twins in which one twin has the SRS syndrome, whereas the other appears unaffected. (1,41,42) The same has been observed in twins with BWS, relative to the loss of DNA methylation at the KvDMR1. (43) Intriguingly, BWS seems to occur at an increased frequency in monozygotic twins and virtually all of these reported twins were females.…”

Section: Introductionsupporting

confidence: 60%

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

2006

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Section: Introductionsupporting

confidence: 60%

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

2006

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“…It may be worth pointing out that the twins were females. In this context, the sex ratio of previously reported five monozygotic twin pairs discordant for SRS is not remarkable with a male to female ratio of 2:3, and discordance for hypomethylation of the H19-DMR has been confirmed only in a single female twin pair (Nyhan and Sakati 1977;Samn et al 1990;Bailey et al 1995;Sagot et al 1996;Gicquel et al 2005). However, discordance for BWS and hypomethylation of the KvDMR1 is predominantly manifested by monozygotic female twins with a male to female ratio of 1:11 (Gaston et al 2001;Weksberg et al 2002).…”

Section: Discussionmentioning

confidence: 87%

“…Notably, five monozygotic twin pairs discordant for SRS have been reported (Nyhan and Sakati 1977;Samn et al 1990;Bailey et al 1995;Sagot et al 1996;Gicquel et al 2005). In addition, the H19-DMR analysis has been performed in a single female twin pair, identifying a discordant methylation pattern (Gicquel et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR

et al. 2008

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Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features, and is frequently caused by hypomethylation of the paternally derived H19-DMR (epimutation). We observed 5 8/12-year-old female twins discordant for SRS. One twin exhibited SRS-compatible features, such as pre-and postnatal growth failure, relative macrocephaly, triangular face, left hemihypotrophy, and bilateral fifth finger clinodactyly, whereas the other twin showed apparently normal phenotype. Microsatellite analysis for 26 loci on multiple chromosomes showed monozygosity. Methylation analysis for the H19-DMR indicated epimutation in roughly half of cells in the affected twin and normal patterns in the unaffected twin and the parents. X-inactivation analysis revealed random X-inactivation with a nearly identical pattern between the twins. The discordant methylation pattern of the H19-DMR may primarily be due to a failure to maintain the DNA methyltransferase-1-dependent methylation imprint around the pre-implantation S phase, because such failure would result in the production of two different cell clones, one with normally methylated DMR and the other with demethylated DMR, leading to the separation of cells with different characters and resultant twinning.

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“…Patient 2 was one of discordant monozygous twins, which might be aetiologically relevant: the incidence of monozygotic twinning in BWS is increased 20,21 and some of these show HIL. 22 Monozygous twins discordant for RSS have also been reported ; [23][24][25] although, to our knowledge this latter group has not been investigated for HIL. We believe the discovery of HIL in patient 2 with growth restriction may represent a new aetiological group, with HIL arising as part of the twinning process.…”

Section: Discussionmentioning

confidence: 94%

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

et al. 2010

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International audienceThis study was an investigation of 79 patients referred to the Wessex Regional Genetics Laboratory with suspected Russell-Silver Syndrome or unexplained short stature/intra uterine growth restriction, warranting genetic investigation. Methylation status was analysed at target sequences within eleven imprinted loci (PLAGL1, IGF2R, PEG10, MEST1, GRB10, KCNQ1OT1, H19, IGF2P0, DLK1, PEG3, NESPAS). 37% (29/79) of samples were demonstrated to have a methylation abnormality. The commonest finding was a loss of methylation at H19 (23/29), as previously reported in Russell-Silver Syndrome. In addition, four of these patients had methylation anomalies at other loci, of whom two show hypomethylation of multiple imprinted loci, and two showed a complete gain of methylation at IGF2R. This latter finding was also present in five further patients who did not have demonstrable changes at H19. In total, 7/79 patients showed a gain of methylation at IGF2R and this was significantly different from a normal control population of 267 individuals (p=0.002). This study demonstrates the importance of widening the epigenetic investigation to include multiple imprinted loci and highlights potential involvement of the IGF2R locus in growth restriction

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Monozygotic twins discordant for the Russell‐Silver syndrome

Cited by 34 publications

References 10 publications

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

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