Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.

DeBaun MR, Niemitz EL, Feinberg AP
Am J Hum Genet. 2003 72 (1): 156-60

PMID: 12439823 · PMCID: PMC378620 · DOI:10.1086/346031

Recent data in humans and animals suggest that assisted reproductive technology (ART) might affect the epigenetics of early embryogenesis and might cause birth defects. We report the first evidence, to our knowledge, that ART is associated with a human overgrowth syndrome-namely, Beckwith-Wiedemann syndrome (BWS). In a prospective study, the prevalence of ART was 4.6% (3 of 65), versus the background rate of 0.8% in the United States. A total of seven children with BWS were born after ART-five of whom were conceived after intracytoplasmic sperm injection. Molecular studies of six of the children indicate that five of the six have specific epigenetic alterations associated with BWS-four at LIT1 and one at both LIT1 and H19. We discuss the implications of our finding that ART is associated with human overgrowth, similar to the large offspring syndrome reported in ruminants.

MeSH Terms (16)

Adult Beckwith-Wiedemann Syndrome Child CpG Islands DNA Methylation Female Fertilization in Vitro Genomic Imprinting Humans Male Membrane Proteins Molecular Sequence Data Phenotype Potassium Channels, Voltage-Gated RNA, Long Noncoding RNA, Untranslated

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