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MCB1 Block 4 > Gain of Function Mutation > Flashcards

Gain of Function Mutation Flashcards

1
Q

What is a gain of function mutation

A

increased or novel gene function

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2
Q

What type of mutation causes gain of function

A

missense, gene duplciations, chromosomal translocations

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3
Q

What is main disease when FGFR3 is mutated

A

achondroplasia

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4
Q

What does FGFR3 encode?

A

tyrosine kinase receptor

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5
Q

What does TD stand for

A

Thanatophoric Dysplasia

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6
Q

What is mode of inheritance of TD

A

AD

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7
Q

Do pts with TD usually survive?

A

usually still born

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8
Q

what mutation is thanatophoric dysplasia caused by

A

sporadic mutatins

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9
Q

Death in uterio or perinatal lethal, limb shortening, severe frontal bossing, very small chest, death due to respiratory failure is what disease

A

Thanatophoric Dysplasia

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10
Q

What is the main type of Thanatorphic Dysplasia

A

TD1

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11
Q

What is the most common form of swarfism

A

Achondroplasia

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12
Q

What are most mutations caused by that cause achondroplasia

A

sporadic mutation

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13
Q

What is the specific mutation that causes achondroplasia

A

G380R

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14
Q

If pt has short stature, shortening of long bones of limbs, large head, low nasal bridge, lumbar lordosis, normal life expectancy & intelligence is what disease?

A

achondroplasia

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15
Q

What is a major life threatening complication that can occur with pts in achondroplasia

A

compression of foramen magnum

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16
Q

When does homozygous achondroplasia occur

A

when two people with achondroplasia mate

17
Q

what is the phenotype of homozygous achondroplasia

A

perinatal lethal (comparable to TD1)

18
Q

What test could be done to confirm if pt has homozygous achondroplasia and TD1?

A

Look at parents - if both parents have achondroplasia then pts is homozygous achondroplasia

19
Q

What is the biggest role in FGFR3 regarding development

A

bone growth

20
Q

What is biggest role in FGFR2 regarding development

A

skull

21
Q

What is disease when FGFR2 is mutated?

A

Apert syndrome

22
Q

gain of function and loss of function mutations will have what kind of phenotypes compared to each other

A

opposite

23
Q

WHat is FGFR3’s role in chondrocyte proliferation

A

it stops proliferation so it slows bone growth

24
Q

Gain of function mutations do what to dimerization of RTKs

A

they increase dimerization

25
Q

A loss of function mutation has what kind of phenotype compared to achondroplasia

A

opposite

26
Q

Explain the knockout of FGFR3 and knock in of FGFR3

A

knockout: longer growth of limbs

knock in: shorter limbs, smaller skeletons

27
Q

What does CATSHLS stand for

A

camptodactylyl tall stature, and hearing loss syndrome

28
Q

what human disease has loss of function in FGFR3?

A

CATSHLS

29
Q

clinical presentatuion: tall stature, severe lateral tibial deviation, scoliosis, compacdyctyal is what disease

A

CATSHLS

30
Q

What does FOP stand for

A

fibrodysplasia ossificans progressiva

31
Q

FOP is caused by mutations in what gene

A

ACVR1

32
Q

What is ACVR1?

A

BMP receptor part of TGF beta family

33
Q

clinical presentation: heterotropic ossification of skeletal muscles, tendons, ligaments and fascia, congenital malformation of big toes is what disase

A

FOP

34
Q

clinical presentation: heterotropic ossification of skeletal muscles, tendons, ligaments and fascia, congenital malformation of big toes is what disase

A

FOP

35
Q

What kind of mutation is in ACVR1?

A

gain of function

36
Q

What does BMP stand for?

A

Bone Morphogenetic proetins

37
Q

What do BMPs do?

A

induce bone and cartilage formation

38
Q

Gain of function mutations in BMP receptor leads to what

A

heterotrophic ossification

39
Q

What is the BMP receptor

A

ACVR1

MCB1 Block 4 (17 decks)

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