TY - JOUR
T1 - Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection
AU - Chopra, M.
AU - Amor, David J
AU - Sutton, L.
AU - Algar, E.
AU - Mowat, David
PY - 2010/6
Y1 - 2010/6
N2 - 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.
AB - 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.
KW - Assisted reproductive technology
KW - Imprinting disorders
KW - Russell-Silver syndrome
UR - http://www.scopus.com/inward/record.url?scp=77957790511&partnerID=8YFLogxK
U2 - 10.1016/j.rbmo.2010.02.025
DO - 10.1016/j.rbmo.2010.02.025
M3 - Article
AN - SCOPUS:77957790511
SN - 1472-6483
VL - 20
SP - 843
EP - 847
JO - Reproductive BioMedicine Online
JF - Reproductive BioMedicine Online
IS - 6
ER -