Random diseases

Question 1

Neurofibromatosis Type I

Answer 1

Autosomal Dominant
LOF of NF1, Neurofibromin- tumor supressor gene (17q)
Clinical:
• 6 or more café au lait spots
• 2 or more neurofibromas
• 1 plexifom neurofibroma
• Freckling in the axillary or inguinal area 
• Optic glioma
• 2 or more Lisch Nodules
• Distinctive osseous lesions
• Affected first degree relative

Question 2

Marfan Syndrome

Answer 2

Autosomal Dominant
Dom Neg activity mutation in FBN-1, Fibrilin gene
Reduction in # of microfibrils (LOF??)
Clinical:
• Aortic root enlargement
• Hand & wrist signs
• Ectopia Lentis

Question 3

PCKD

Answer 3

Autosomal Dominant
Mutation in PKD1/2 (Polycistin 1/2)
Produces truncated protein
Clinical:
• Bilateral renal cysts
• Cysts in other organs
• Vascular abnormalities
• End stage renal disease in 50% by 60 years old

Question 4

Familial Hypercholsterolemia

Answer 4

Autosomal Dominant
Mutation in LDLR (body can’t clear LDL), 19p
Clinical:
• High cholesterol and LDL levels
• Xanthomas
• Premature coronary artery disease and death

Question 5

Hemophilia A

Answer 5

X-Recessive
Mutation in Factor 8
Clinical:
Spontaneous bleeds into joints, muscles or intracranial
Excessive bruising
Prolonged bleeding after injury or incision Delayed wound healing

Question 6

Duchenne Muscular Dystrophy

Answer 6

X-Recessive?

Mutation in dystropin

Question 7

Fragile X

Answer 7

X-Recessive
Mutation on FRM1 --> FMRP (failure to express protein)
Clinical:
Intellectual disabilities
Dysmorphic features: large ears, long face, macroorchidism
Autistic behavior Social anxiety
Hand flapping/biting Aggression
3-nt repeat disorder
5-45 = normal
45 - 55 = gray zone
56 - 200 = premutation