Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

J Assist Reprod Genet. 2007 Apr;24(4):131-6. doi: 10.1007/s10815-006-9096-3. Epub 2007 Feb 16.


Purpose: The prevalence of low birth weight (LBW) is increased in subjects born after assisted reproduction technology (ART), and defective imprinting has frequently been identified in patients with Beckwith-Wiedermann and Angelman syndromes conceived by ART. Thus, we examined methylation pattern in a girl born after ART who had Silver-Russell syndrome (SRS) which can be caused by maternal uniparental disomy for chromosome 7 and by hypomethylation of the differentially methylated region (DMR) of H19.

Methods: We examined methylation status of 31 cytosines at the CpG dinucleotides in the DMR of PEG1/MEST on 7q32.2 and 23 cytosines at the CpG dinucleotides in the DMR of H19 on 11p15, using leukocyte genomic DNA.

Results: Eight of the 31 cytosines in the patient and four of the 31 cytosines in the father were hypermethylated in the PEG1/MEST-DMR. In the H19-DMR, no abnormal methylation pattern was identified in the patient.

Conclusion: The results suggest that hypermethylation of paternally expressed genes including PEG1/MEST, which usually have growth-promoting effects, may be relevant to LBW in subjects conceived by ART.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • DNA Methylation
  • DNA Primers
  • Female
  • Fertilization in Vitro*
  • Fetal Growth Retardation / genetics
  • Growth
  • Humans
  • Infant, Low Birth Weight
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Pregnancy
  • Proteins / genetics*
  • Twins


  • DNA Primers
  • Proteins
  • mesoderm specific transcript protein