Journal of Assisted Reproduction and Genetics

, Volume 24, Issue 4, pp 131–136

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

Authors

  • Masayo Kagami
    • Department of Endocrinology and MetabolismNational Research Institute for Child Health and Development
  • Toshiro Nagai
    • Department of PediatricsDokkyo University School of Medicine Koshigaya Hospital
  • Maki Fukami
    • Department of Endocrinology and MetabolismNational Research Institute for Child Health and Development
  • Kazuki Yamazawa
    • Department of Endocrinology and MetabolismNational Research Institute for Child Health and Development
    • Department of Endocrinology and MetabolismNational Research Institute for Child Health and Development
Genetics

DOI: 10.1007/s10815-006-9096-3

Cite this article as:
Kagami, M., Nagai, T., Fukami, M. et al. J Assist Reprod Genet (2007) 24: 131. doi:10.1007/s10815-006-9096-3

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.

Keywords

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

Copyright information

© Springer Science+Business Media, LLC 2006