Specific Disease Facts

Question 0

Cause of Osteogenesis Imperfecta a Type 1 and one unusual effect

Answer 0

Loss of function in COL1A1, causes unstable mRNA that’s degraded

Causes progressive hearing loss in adults

Autosomal Dominant

Question 1

Cause of Duchenne Muscular Dystrophy, type of mutation, associated syndrome

Answer 1

Large deletion causing Loss of Function
Xp21.2 (nonsense)
Dystrophin gene affected
Always new mutation (0 survivability)
Becker Syndrome results from in frame deletion or missense
X-linked recessive

Question 2

Osteogenesis Imperfecta Types II, III, IV, type of mutation

Answer 2

Novel property mutation due to new/different folding capacity

Question 3

Define genetic anticipation

Answer 3

Indicates earlier onset of disease in offspring, increasing through generations.

Question 4

Clinical presentation of Myotonic Dystrophy 1 and gene involved.

Answer 4

Droopy eyes, intellectual difficulty, hypotonia

DMPK (CTG repeats in the 3’UTR)