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M2M Genetic Diseases > Autosomal Dominant > Flashcards

Autosomal Dominant Flashcards

1
Q

Osteogenesis Imperfecta Type 1 - Associated gene

A

COL1A1 (collagen type 1 alpha 1)

chromosome 17

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2
Q

Osteogenesis Imperfecta Type 1 - Mechanism

A

decrease production of Pro-alpha 1 chains –>
decrease in type 1 collagen

variable expressivity

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3
Q

Osteogenesis Imperfecta Type 1 - Clinical presentaiton

A 
brittle bones
fractures
blue sclerae (whites of eyes)
normal stature
adult onset hearing loss
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4
Q

Achondroplasia - Associated gene

A

FGFR3 (fibroblast growth factor receptor 3)

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5
Q

Achondroplasia - Inheritance

A

autosomal dominant

incomplete dominance

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6
Q

Achondroplasia - Mechanism

A

gain of function: Gly380Arg mutation
Receptor normally inhibits bone growth - defective receptor is always on, causing shortening of limbs
De novo: father’s germline (with age)
Homozygous state is lethal - incomplete dominance

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7
Q

Achondroplasia - Clinical presentation

A

short stature
rhizomelic limb shortening (proximal limb shorter than distal limbs)
large head with frontal bossing
short fingers, trident hands
small foramen magnum, craniocervical instability
genu varum (bow legged)
midfacial retusion (sunken in)

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8
Q

Neurofibromatosis Type 1 - Associated gene

A 
NF1 gene (codes for neurofibroma-tumor suppressor gene)
chromosome 17
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9
Q

Neurofibromatosis Type 1 - Inheritance

A

autosomal dominant

50% new mutation rate

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10
Q

Neurofibromatosis Type 1 - Mechanism

A

loss of function of NF1 gene
dominant but must have mutation in both genes to show phenotype - cells must develop a second mutation to cause disease
100% penetrance, variable expressivity

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11
Q

Neurofibromatosis Type 1 - Clinical presentation

A 
must have 2 of the phenotypes
Cafe au Lait spots
axillary and inguinal freckling
multiple neurofibromas
lisch nodules (spots/bumps on eye)
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12
Q

Marfan Syndrome - Associated gene

A

FBN1 (fibrillin-extracellular matrix)

chromosome 15

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13
Q

Marfan Syndrome - Mechanism

A

decrease in microfibrils

variable expressivity

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14
Q

Marfan Syndrome - Clinical presentation

A 
connective tissue disorder
ocular, skeletal, and cardiovascular manifestations
enlarged aortic root
appear tall and skinny (long-limbed)
hypermobile joint
pectus excatum/carnatum
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15
Q

AD Polycystic Kidney Disease - Associated gene

A

ADPKD
Chromosome 16

OR

ADPKD-1
Chromosome 4

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16
Q

AD Polycystic Kidney Disease - Mechanism

A

locus heterogeneity

17
Q

AD Polycystic Kidney Disease - Clinical presentation

A

enlarged kidneys with multiple cysts
end stage renal disease
extra renal cysts (i.e. in pancreas)
intracranial aneurysms

18
Q

Familial hypercholesterolemia - Mechanism

A

mutations in gene encoding LDL receptor (can’t clear LDL from blood stream)

19
Q

Familial hypercholesterolemia - Clinical presentation

A

high cholesterol levels
deposition of cholesterol throughout body
premature coronary artery disease

20
Q

Retinoblastoma - Associated gene

A

RB1 gene - regulates cell cycle

Chromosome 13

21
Q

Retinoblastoma - Clinical presentation

A

malignant tumor of retina

22
Q

Tuberous Sclerosis - Associated gene

A

TSC1 or TSC2
(mutation in either)
regulates cell growth, proliferation
encodes hamartin and tuberin proteins

23
Q

Tuberous Sclerosis - Mechanism

A

fully penetrant

locus heterogeneity

24
Q

Tuberous Sclerosis - Clinical presentation

A 
must have 2 major of 1 major minimum
Skin (patches, growths)
cysts on kidneys
cardiac rhabdomyoma in infants
seizures
psychiatric disorders
25
Q

Trinucleotide repeat disorders - Inheritance

A

Autosomal dominant
Autosomal recessive
X-linked

26
Q

Trinucleotide repeat disorders - Mechanism

A

expansion of DNA segment with 3+ nucleotides (>39)
can cause slipped mispairing (during replication)

anticipation
parental transmission bias

27
Q

Huntington’s disease - Inheritance

A

Autosomal dominant

can also be autosomal recessive or x-linked

28
Q

Huntington’s disease - Associated gene

A

HTT

Chromosome 4

29
Q

Huntington’s disease - Mechanism

A

Polyglutamate disease

increased CAG repeats (>40 is penetrant,

30
Q

Huntington’s Disease - Clinical presentation

A

Adult onset
Progressive neurodegenerative disorder
Cognitive
Psychiatric

31
Q

Myotonic Dystrophy I - Associated gene

A

DMPK

Chromosome 19

32
Q

Myotonic Dystrophy I - Mechanism

A

Trinucleotide repeat disorder (CTG) >50
Anticipation
Maternal Transmission

33
Q

Myotonic Dystrophy I - Clinical Presentation

A

Droopy eyes
cataracts
intellectual difficulty
hypotonia

M2M Genetic Diseases (7 decks)

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