PWS/Angelmans

Question 1

Two main genetic causes of PWS with % of cases

Answer 1

Paternal deletion-70%

Maternal disomy-30%

Question 2

What gene region is affected in both Angelman’s and PWS?

Answer 2

15q11-q13 region (~10 genes)

Question 3

Main genetic causes of Angelman’s with % of cases

Answer 3

Maternal deletion-70%
Paternal disomy-5%
Maternal UBE3A gene, imprinting centers, or unknown-25%

Question 4

Primary symptoms of PWS

Answer 4

HGH deficiency-hypotonia, decreased energy needs, abnormal swallowing
Hypogonadism-infertility
Hyperphagia
Tacky saliva
May have normal intellectual ability, usually their verbal skills appear intact even if their cognitive abilities are not
Rigidity/perseveration (not similar to OCD)
Abnormal responses to CO2/O2 levels
Mitochondrial dysfunction
Stress sensitive