Recently, several reports have been published that showed a higher incidence of assisted reproductive technologies (ART) in patients with Beckwith–Wiedemann syndrome compared with the general population, and in most of these patients, aberrant methylation imprints of KvDMR1 have been found. This has led to the concern that ART might increase the incidence of imprinting syndromes such as Beckwith–Wiedemann syndrome. Not much is known on environmental or genetic factors that may interfere with the processes of imprint maintenance or resetting. A methylation analysis of KvDMR1 was performed in human oocytes at different stages of nuclear maturity and in sperm cells. The results indicate that the maternal methylation imprints were already established at the germinal vesicle stage, whereas all sperm cells were unmethylated, thereby showing that the KvDMR1 carries a germline methylation imprint. For one of the oocytes analysed, an unmethylated pattern was found, which highlights the need for further molecular studies that consider the safety of ART.
- ART, assisted reproductive technologies
- BWS, Beckwith–Wiedeman syndrome
- DMR, differentially methylated region
- ICR, imprinting control region
- ICSI, intracytoplasmic sperm injection
- KCNQ1, potassium voltage-gated channel subfamily Q, member 1
- PCR, polymerase chain reaction
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