Transmission of Angelman syndrome by an affected mother.
OBJECTIVE
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 methylation-specific 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.
Department of Molecular Genetics and Microbiology, and Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville 32610-0296, USA.
A C
AC
Lossie
D J
DJ
Driscoll
D017204:Angelman Syndrome / Q000235:genetics*; D015139:Blotting, Southern; D002884:Chromosomes, Human, Pair 15; D019175:DNA Methylation; D005123:Eye / Q000196:embryology*; D005220:Fathers; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats; D009035:Mothers; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases