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Journal of Assisted Reproduction and Genetics

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01.04.2007 | Genetics

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

verfasst von: Masayo Kagami, Toshiro Nagai, Maki Fukami, Kazuki Yamazawa, Tsutomu Ogata

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 4/2007

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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.

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Titel: Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST
verfasst von: Masayo Kagami
Toshiro Nagai
Maki Fukami
Kazuki Yamazawa
Tsutomu Ogata
Publikationsdatum: 01.04.2007
Verlag: Kluwer Academic Publishers-Plenum Publishers
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 4/2007
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-006-9096-3

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