Genetic Diseases I

Question 1

examples of autosomal dominant diseases

Answer 1

marfan
ehlers hanolos
huntington
NF 1 and 2

Question 2

characteristics of autosomal dominant disease

Answer 2

reduced penetrance
variable expressivity
delayed onset
reduced production or inactive protein

Question 3

what chromosome is affected in Marfan

Answer 3

chromosome 15

Question 4

marfan has a mutation in gene that encodes for what

Answer 4

fibrillin-I

Question 5

fibrillin-I

Answer 5

glycoprotein constituent of micrfibils

Question 6

Where are problems due to marfan’s found

Answer 6

aorta
eye
skeletal system

Question 7

what type of mutation causes marfans

Answer 7

missense

Question 8

how does marfans affect heart

Answer 8

stiffening of aortic wall

mitral valve prolapse

Question 9

what are the affects of fibrillin 1 mutations

Answer 9

increased TGF beta1 activity
inflammation
MMP upregulation
elastolysis
cell disarray

Question 10

how does marfans affect the eye

Answer 10

ectopia lentis - displaced lens

Question 11

how does mafans affect skeletal system

Answer 11

pectus carinatum
pectus excavatum
arachnodactylyl
joint hypermobility

Question 12

what can ectopic lentis cause

Answer 12

nearsightedness

Question 13

mitral valve prolapse

Answer 13

valve clicks shut

flopsy

Question 14

aortic dissection

Answer 14

can be very deadily

pt has stabbing pain that radiates to the back

Question 15

cystic medial degeneration

Answer 15

elastic fibers, instead of running in parallel arrays are disrupted by pools of blue mucinous ground substance

Question 16

type I and II elhers danoles

Answer 16

characretised by mutations that contain COL5A1 or COL5A2 encoding alpha chians of type V collagen

Question 17

type IV elhers danoles

Answer 17

decreased amount of type III collagen - most deadily

Question 18

type V and VI elhers danoles

Answer 18

deficiences in lysyl hydrozylase and lysyl oxidase, important modifyin genzyme in collagen biosynthesis

Question 19

type VII elhers danoles

Answer 19

has amino-terminal procollagen peptidase deficiency

Question 20

what is elhers danoles characterized by

Answer 20

joint hypermobility
cutaneous fragility
hyperextensibility

Question 21

What is unique about NF1

Answer 21

highly variable expression but 100% penetrance

Question 22

what mutation results in NF1

Answer 22

downregulat function of p21 ras oncoprotein

Question 23

common symptoms of NF1

Answer 23

axillary and/or inguinal freckling
cafe-au-lait
lische nnodules
neurofibrosis
bone lesiosn

Question 24

lisch nodules

Answer 24

pigmented hamartomas of iris

Question 25

lisch nodules

Answer 25

pigmented hamartomas of iris

Question 26

where do neurofibroma grow

Answer 26

along nerve sheath

Question 27

what do neurofibroma contain

Answer 27

multiple cell types from peripheral nerve

Question 28

people with neurfibromtosis have a long term risk for what

Answer 28

malignant neoplasma - specifically MPNSTs

Question 29

NF2

Answer 29

devastating autosomal dominant disorder that is different from NF1

Question 30

what chromosomes do NF2 affect

Answer 30

17q | 22q

Question 31

when do people develop NF2 symptoms

Answer 31

100% will develop symptoms by 60 y/o

Question 32

how do tumors develop because of NF2

Answer 32

inactivation of merlin/schwannomin

Question 33

what do people with NF2 develop

Answer 33

bilateral vesticular schwannoomas | meningiomas

Question 34

common symptoms of NF2

Answer 34

hearing loss tinnitus headache balance problems

Question 35

what do NF2 VS look like

Answer 35

bunches of grapes