Angelman syndrome is due to a lack of function of part of chromosome 15 inherited from a person’s mother. Most of the time, it is due to a deletion or mutation of the UBE3A gene on that chromosome.
This condition can manifest with a broad spectrum of symptoms like: developmental delay, speech impairment, receptive and non-verbal communication skills higher than verbal ones, movement or balance disorder, atypical frequent laughter/smiling, atypically happy demeanor, easily excitable personality, often with hand flapping movements, hypermotoric behaviour, short attention span, microcephaly (absolute or relative) by age 2.
Angelman syndrome is caused by the lack of expression of a gene known as UBE3A during development. UBE3A gene is located within a region of chromosome 15 (15q11-q13) and with resulting protein being a part of the ubiquitin pathway.
Between 1:10’000 to 1:20’000