Journal of Assisted Reproduction and Genetics

, Volume 24, Issue 4, pp 131–136 | Cite as

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


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.


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



This work was supported by a grant for Child Health and Development (17C-2) and a grant for Research on Children and Families from the Ministry of Health, Labor, and Welfare.


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Copyright information

© Springer Science+Business Media, LLC 2006

Authors and Affiliations

  • Masayo Kagami
    • 1
  • Toshiro Nagai
    • 2
  • Maki Fukami
    • 1
  • Kazuki Yamazawa
    • 1
  • Tsutomu Ogata
    • 1
  1. 1.Department of Endocrinology and MetabolismNational Research Institute for Child Health and DevelopmentTokyoJapan
  2. 2.Department of PediatricsDokkyo University School of Medicine Koshigaya HospitalKoshigayaJapan

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