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 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.

journal_name

Reprod Biomed Online

authors

Chopra M,Amor DJ,Sutton L,Algar E,Mowat D

doi

10.1016/j.rbmo.2010.02.025

subject

Has Abstract

pub_date

2010-06-01 00:00:00

pages

843-7

issue

6

eissn

1472-6483

issn

1472-6491

pii

S1472-6483(10)00107-0

journal_volume

20

pub_type

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