Intracytoplasmic sperm injection may increase the risk of imprinting defects.
In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome. Molecular studies, including DNA methylation and microsatellite and quantitative Southern blot analysis, revealed a sporadic imprinting defect in both patients. We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo.
Cox
Gerald F
GF
Children's Hospital, Boston, MA 02115, USA.
Bürger
Joachim
J
Lip
Va
V
Mau
Ulrike A
UA
Sperling
Karl
K
Wu
Bai-Lin
BL
Horsthemke
Bernhard
B
D000328:Adult; D017204:Angelman Syndrome / Q000209:etiology* / Q000235:genetics*; D000818:Animals; D002675:Child, Preschool; D019175:DNA Methylation; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000628:therapy; D008297:Male; D011247:Pregnancy; D012307:Risk Factors; D020554:Sperm Injections, Intracytoplasmic / Q000009:adverse effects*