Ontology highlight
ABSTRACT:
SUBMITTER: Malzac P
PROVIDER: S-EPMC1377156 | biostudies-other | 1998 Jun
REPOSITORIES: biostudies-other
Malzac P P Webber H H Moncla A A Graham J M JM Kukolich M M Williams C C Pagon R A RA Ramsdell L A LA Kishino T T Wagstaff J J
American journal of human genetics 19980601 6
Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene. UBE3A encodes a ubiquitin-protein ligase and shows brain-specific imprinting. Here we describe UBE3A coding-region mutations detected by SSCP analysis in 13 AS individuals or families. Two identical de novo 5-bp duplications in exon 16 were found. Among the other 11 unique mutations, 8 were small deletions or in ...[more]