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


CONCLUSIONS
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.
Kagami
Masayo
M
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
Nagai
Toshiro
T
Fukami
Maki
M
Yamazawa
Kazuki
K
Ogata
Tsutomu
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D002648:Child; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D019175:DNA Methylation; D017931:DNA Primers; D005260:Female; D005307:Fertilization in Vitro; D005317:Fetal Growth Retardation / Q000235:genetics; D006128:Growth; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D011247:Pregnancy; D011506:Proteins / Q000235:genetics*; D014427:Twins
D017931:DNA Primers; D011506:Proteins; C103637:mesoderm specific transcript protein