Transmission of Angelman syndrome by an affected mother

Abstract

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 femaleswith Angelman syndrome are fully capable of reproduction and that UBE3A is not imprinted in fetal eye.