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

Masayo Kagami, Toshiro Nagai, Maki Fukami, Kazuki Yamazawa, Tsutomu Ogata

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92 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)131-136
Number of pages6
JournalJournal of Assisted Reproduction and Genetics
Volume24
Issue number4
DOIs
Publication statusPublished - 2007 Apr

Keywords

  • Hypermethylation
  • Imprinting
  • In vitro fertilization
  • PEG1/MEST
  • Silver-Russell syndrome

ASJC Scopus subject areas

  • Reproductive Medicine
  • Genetics
  • Obstetrics and Gynaecology
  • Developmental Biology
  • Genetics(clinical)

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