Single gene disorders

Question 1

marfans

Answer 1

autosomal dominant
broad phenotype

tall and stretchy
hypermobile joints
aortic root dilatation

Question 2

NF2

Answer 2

autosomal dominant
tumor suppressor gene merlin

bilateral vestibular schwannoma
multiple meningiomas
cataracts

die young

Question 3

tuberous sclerosis

Answer 3

autosomal dominant
TSC1 and TSC 2 genes

multiple benign hemartomas
epilepsy
cognitive impairment

mTOR target
sirolimus
everolimus

Question 4

proteus syndrome

Answer 4

mutation in AKT1 kinase
tissue overgrowth involving all three embryonic lineages
Tumors of skin and bone growths appear as they age typically in early childhood

Question 5

huntingtons disease

Answer 5

autosomal dominant
triplet repeat

progessive neurodegenerative disorder

jerky random movements
difficulty with coordination
cognitive impairment

Question 6

duchenne muscular dystrophy

Answer 6

x linked
mutations in dystrophin gene
deletion/mutation disrupts reading frame.
no functional protein

proximal muscle weakness in childhood
broad gait
progressive
mild iq impairment

Question 7

myotonic dystrophy

Answer 7

autosomal dominant
trinucleotide repeat disorder
DM1
DM2

generally worsens each generation
progressive muscle weakness

Question 8

noonan syndrome

Answer 8

autosomal dominant

heart defects
short stature
intellectual impairment