Genetic Diseases I Flashcards
examples of autosomal dominant diseases
marfan
ehlers hanolos
huntington
NF 1 and 2
characteristics of autosomal dominant disease
reduced penetrance
variable expressivity
delayed onset
reduced production or inactive protein
what chromosome is affected in Marfan
chromosome 15
marfan has a mutation in gene that encodes for what
fibrillin-I
fibrillin-I
glycoprotein constituent of micrfibils
Where are problems due to marfan’s found
aorta
eye
skeletal system
what type of mutation causes marfans
missense
how does marfans affect heart
stiffening of aortic wall
mitral valve prolapse
what are the affects of fibrillin 1 mutations
increased TGF beta1 activity inflammation MMP upregulation elastolysis cell disarray
how does marfans affect the eye
ectopia lentis - displaced lens
how does mafans affect skeletal system
pectus carinatum
pectus excavatum
arachnodactylyl
joint hypermobility
what can ectopic lentis cause
nearsightedness
mitral valve prolapse
valve clicks shut
flopsy
aortic dissection
can be very deadily
pt has stabbing pain that radiates to the back
cystic medial degeneration
elastic fibers, instead of running in parallel arrays are disrupted by pools of blue mucinous ground substance
type I and II elhers danoles
characretised by mutations that contain COL5A1 or COL5A2 encoding alpha chians of type V collagen
type IV elhers danoles
decreased amount of type III collagen - most deadily
type V and VI elhers danoles
deficiences in lysyl hydrozylase and lysyl oxidase, important modifyin genzyme in collagen biosynthesis
type VII elhers danoles
has amino-terminal procollagen peptidase deficiency
what is elhers danoles characterized by
joint hypermobility
cutaneous fragility
hyperextensibility
What is unique about NF1
highly variable expression but 100% penetrance
what mutation results in NF1
downregulat function of p21 ras oncoprotein
common symptoms of NF1
axillary and/or inguinal freckling cafe-au-lait lische nnodules neurofibrosis bone lesiosn
lisch nodules
pigmented hamartomas of iris
lisch nodules
pigmented hamartomas of iris
where do neurofibroma grow
along nerve sheath
what do neurofibroma contain
multiple cell types from peripheral nerve
people with neurfibromtosis have a long term risk for what
malignant neoplasma - specifically MPNSTs
NF2
devastating autosomal dominant disorder that is different from NF1
what chromosomes do NF2 affect
17q
22q
when do people develop NF2 symptoms
100% will develop symptoms by 60 y/o
how do tumors develop because of NF2
inactivation of merlin/schwannomin
what do people with NF2 develop
bilateral vesticular schwannoomas
meningiomas
common symptoms of NF2
hearing loss
tinnitus
headache
balance problems
what do NF2 VS look like
bunches of grapes
