Ontology highlight
ABSTRACT:
SUBMITTER: Baker EK
PROVIDER: S-EPMC9800002 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
Baker Emma K EK Merton Catherine F CF Tan Wen-Hann WH Dudding-Byth Tracy T Godler David E DE Sadhwani Anjali A
European journal of medical genetics 20220223 4
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of expression of the maternally-inherited UBE3A on chromosome 15q11.2. In AS due to a chromosomal deletion that encompasses UBE3A, paternal uniparental disomy of chromosome 15, or imprinting defects (ImpD), the SNRPN locus is unmethylated, while in neurotypical individuals, it is ∼50% methylated. We present the developmental profile of two adults with mild AS assessed using standardized behavioral and neurodevelopmenta ...[more]