Russell–Silver syndrome due to paternal H19 / IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection

Abstract Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal loci have been observed in the spermatozoa of infertile men, but there is little evidence of pater...

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Bibliographic Details
Published in:Reproductive biomedicine online 2010-06, Vol.20 (6), p.843-847
Main Authors: Chopra, M, Amor, D.J, Sutton, L, Algar, E, Mowat, D
Format: Article
Language:English
Subjects:
assisted reproductive technology
DNA Methylation
Female
Humans
imprinting disorders
Insulin-Like Growth Factor II - genetics
Insulin-Like Growth Factor II - metabolism
Male
Obstetrics and Gynecology
RNA, Long Noncoding
RNA, Untranslated - genetics
Russell–Silver syndrome
Silver-Russell Syndrome - genetics
Sperm Injections, Intracytoplasmic
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Summary:Abstract Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal loci have been observed in the spermatozoa of infertile men, but there is little evidence of paternal epimutations in babies conceived using assisted reproductive treatment. This is a report of a female infant with classic Russell–Silver Syndrome (RSS) who was conceived using intracytoplasmic injection of spermatozoa obtained from testicular aspiration. Methylation studies revealed hypomethylation of the paternally derived H19 / IGF2 locus. As far as is known, this is the second assisted reproduction treatment-conceived patient with classic RSS and this epigenotype. This case provides further evidence that epimutations affecting paternal alleles might be associated with assisted reproductive treatment.
ISSN:1472-6483
1472-6491
DOI:10.1016/j.rbmo.2010.02.025