Angel-man syndrome

Question 1

loss of function of which gene

Answer 1

UBE3A gene

specifically copy of gene inherited from mother

Question 2

loss of function of gene - causes for this function loss

Answer 2

• deletion on chromosome 15
• specific mutation
• both copies inherited from dad, no maternal copy

Question 3

features

Answer 3

delayed development 
severe delay/absence speech development 
ataxia
fascination with water
happy demenous 
inappropriate laughter
ADHD
microcephaly 
fair skin, light hair, blue eyes
wide mouth with widely spaced teeth

Question 4

novel features

Answer 4

unusual fasicnation with water
happy demenour
widely spaced teeth