Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

• Published in: American journal of human genetics Vol. 71; no. 1; pp. 162 - 164
• Main Authors: Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01-07-2002; University of Chicago Press; The American Society of Human Genetics
• Subjects: Adult; Angelman Syndrome - etiology; Angelman Syndrome - genetics; Animals; Biological and medical sciences; Birth control; Child, Preschool; DNA Methylation; Female; Genomic Imprinting; Gynecology. Andrology. Obstetrics; Humans; Infertility, Male - genetics; Infertility, Male - therapy; Male; Medical sciences; Pregnancy; Risk Factors; Sperm Injections, Intracytoplasmic - adverse effects; Sterility. Assisted procreation; Human; Nervous system diseases; Sporadic; Intracytoplasmic sperm injection; Pathogenesis; Assisted procreation; Exploration; Happy puppet syndrome; Congenital disease; Genetic determinism; Cerebral disorder; Genomic imprinting; Case study; Malformation; Central nervous system disease; Parental origin; Complex syndrome; Molecular biology
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/341096

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.