Purpose: To determine: 1) If a 15q11–13 deletion was transmitted from a female with Angelman syndrome to her fetus, and 2) If the UBE3A gene was functionally imprinted in fetal eye.
Methods: Individuals were genotyped by microsatellite analysis. DNA methylation imprints were assessed by Southern blot analysis and methylationspecific PCR. Expression was analyzed by RT-PCR.
Results: The mother and fetus inherited large deletions of maternal 15q11–13 and demonstrated paternal-only DNA methylation imprints along 15q11–13. UBE3A was paternally expressed in eye tissue from the fetus with Angelman syndrome.
Conclusions: We show that females with Angelman syndrome are fully capable of reproduction and that UBE3A is not imprinted in fetal eye.
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Lossie, A., Driscoll, D. Transmission of Angelman syndrome by an affected mother. Genet Med 1, 262–266 (1999). https://doi.org/10.1097/00125817-199909000-00004
- Angelman syndrome
- genomic imprinting
- 13 deletion
- DNA methylation