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

M Chopra; D J Amor; L Sutton; E Algar; D Mowat

doi:10.1016/j.rbmo.2010.02.025

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

Reprod Biomed Online. 2010 Jun;20(6):843-7. doi: 10.1016/j.rbmo.2010.02.025. Epub 2010 Mar 4.

Authors

M Chopra¹, D J Amor, L Sutton, E Algar, D Mowat

Affiliation

¹ Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia.

PMID: 20385510
DOI: 10.1016/j.rbmo.2010.02.025

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.

MeSH terms

DNA Methylation*
Female
Humans
Insulin-Like Growth Factor II / genetics
Insulin-Like Growth Factor II / metabolism*
Male
RNA, Long Noncoding
RNA, Untranslated / genetics*
Silver-Russell Syndrome / genetics*
Sperm Injections, Intracytoplasmic*

Substances

H19 long non-coding RNA
IGF2 protein, human
RNA, Long Noncoding
RNA, Untranslated
Insulin-Like Growth Factor II