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Autosomal dominant Flashcards

1
Q

Achondroplasia

inheritance

A

autosomal dominant

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2
Q

Achondroplasia

incidence

A

1/15,000-40,000

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3
Q

Achondroplasia

mutation rate?

A

80%

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4
Q

Achondroplasia

penetrance?

A

100%

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5
Q

Achnodroplasia

Clinical manifestations

A

Short
Rhizomelic limb shortening (proximal shortening)
short fingers
genu varum (bow legs)
large head / frontal bossing
midfacial retrusion
small foramen magnum / craniocervical instability

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6
Q

Achondroplasia

Mutated gene?

A

FGFR3

Fibroblast growth factor receptor 3

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7
Q

What does FGFR3 do?

A

Regulates bone growth by limiting the formation of bone from cartilage

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8
Q

FGF43 locus?

A

4p16.3 nucleotide 1138

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9
Q

Achondroplasia mutation?

A

nucleotide 1138 missense
1138G>A
amino acid substitution
Gly380Arg

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10
Q

Achondroplasia mutation consequence

A

Mutation increases the activity of the protein, interfering with skeletal development

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11
Q

What is special about the achondroplasia mutation 1138

A

The 1138 of FGFR3 has the highest known mutation rate in man

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12
Q

Men and de novo autosomal dominant conditions?

A

Men over the age of 40 are noted to have hgiher rate of children with de-novo autosomal dominant conditions - i.e. Achondroplasia

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13
Q

Paternal age effect

A

old dudes yield autosomal dominant mutated sperm

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14
Q

4 syndromes associated with paternal age effect

A

Achondroplasia
Apert syndrome
Crouzon syndrome
Pfeiffer syndrome

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15
Q

Retinoblastoma

what is it?

A

autosomal dominant condition

causes malignant tumor of retina

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16
Q

retinoblastoma incidence

A

1/15,000

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17
Q

retinoblastoma gene?

A

RB1 gene on chromsome 13

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18
Q

Retinoblastoma gene product role?

A

Retinoblastoma associated protein regulates the cell cycle

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19
Q

Retinoblastoma penetrance?

A

90%

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20
Q

Notable clinical finding in retinoblastoma?

A

no reflection of red retina - looks white

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21
Q

Neurofibromatosis Type 1 (NF1)
inheritance
frequency
mutation rate

A

autosomal dominant
1/3000
50% new mutation

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22
Q

NF-1

expressivity?

A

variable

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23
Q

NF-1 Diagnostic criteria

2 or more of the following

A 
6 or more cafe au lait
2 or more neurofibromas
1 plexiform neurofibroma
freckling in axillary or inguinal area
optic glioma 
2 or more Lisch nodules
distinctive osseous lesions
affected first degree relative
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24
Q

NF1 mutation?

A

NF1 gene

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25
NF1 gene is what?
Neurofibromin - tumor suppressor gene
26
NF1 locus
17q11.2
27
NF1 type of mutation
loss of function
28
NF1 mutation?
over 1000 mutations have been described
29
What is unique about NF1 and autosomal dominant categorization
Must have a mutation in both genes to show phenotype - but inevitably you will get a second random one
30
``` Tuberous Sclerosis inheritance? incidence expressivity mutation rate? penetrance? ```
autosomal dominant 1/6000 variable expressivity 1/3 inherited 2/3 de novo fully penetrant
31
Tuberous sclerosis | skin findings?
hypopigmented patches angiofibroma shagreen patch ungual fibroma
32
Tuberous sclerosis | kidneys
renal cysts | renal angiomyolipomas
33
Tuberous sclerosis | lungs
lymphangioeiomyomatosis | lung muscle cells multiply abnormally
34
Tuberous sclerosis | heart
cardiac rhabdomyoma (in infants)
35
Tuberous sclerosis | CNS
Subependymal nodules Subependymal giant cell astrocytomas (SEGAs) Other cortical dysplasias Seizures
36
Tuberous sclerosis | Neuropsychiatric
cognitive impairment autism adhd
37
Tuberous sclerosis clinical criteria - two major features or one major and 2 minor Major features
``` angiofibroma cardiac rhabdomyoma cortical dysplasia hypomelanotic macules Lymphangioleiomyomatosis multiple retinal nodular harmartomas renal angiomyolipoma shagreen patch subependymal nodule SEGA ungual fibroma ```
38
Tuberous sclerosis Minor features
``` confetti skin lesions dental enamel pits intraoral fibromas multiple renal cysts nonrenal hamartomas retinal achomic patch ```
39
Tuberous sclerosis | Mutation?
TSC1, | TSC2
40
What do TSC1 and TSC2 do?
Encode hamartin and tuberin proteins
41
What do the hamartin and tuerin proteins encoded by TSC1 and TSC2 do?
regulate cell growth and proliferation
42
Where are the TSC1 and TSC2 genes effected in tuberous sclerosis located?
9 and 16
43
What types of mutations in TSC1 and TSC2 cause tuberous sclerosis?
loss of function
44
Osteogenesis Imperfecta type 1 Inheritance? incidence? expressivity?
autosomal dominant 1/30,000-50,000 variable
45
Osteogenesis imperfecta | Clinical?
multiple fractures mild short stature adult onset hearing loss blue sclera
46
Osteogenesis imperfect mutation?
COL1A1 | Collagen type 1 alpha 1
47
OI mutation = COL1A1 | locus?
7q21.3
48
OI-typeI mutated COL1A1 Consequence?
Reduced production of pro-alpha 1 chains | Reduces the type 1 collagen production by 1/2
49
``` Marfan syndrome inheritance incidence mutation rate expressivity ```
AD 1/5000 25% NEW Variable
50
Marfan syndrome | clinical
Systemic disorder of connective tissue ocular skeletal cardiovascular
51
Marfan diagnosis | no family history
``` aortic root enlargement plus one... ectopia lentis FBN1 mutation systemic score>7 ```
52
Marfan diagnosis | family history
any... ectopia lentis systemic score >7 aortic root enlargement
53
Most notable clinical manifestations of Marfan's
``` Aortic root enlargement Scoliosis Ectopia lentis Thumb and wrist sign Pectus excavatum ```
54
Marfan mutation in?
FBN1 | Firbillin-extracellular matrix protein
55
FBN1 | Locus?
15q21.1
56
Marfan mutation type?
Dominant negative
57
Marfan mutation consequence
severe reduction in the number of microfibrils
58
Trinucleotide repeat disorders
Expansion of segment of DNA consisting of three or more nucleotides Slipped mispairing Anticipation Parental Transmission Bias
59
Trinucleotide repeat | mode of inheritance?
AD, AR X linked
60
Slipped mispairing
Mispairing of bases in regions of repetitive DNA replication couple with inadequate DNA repair As the repeat grows longer, the probability of subsequent mispairing increases In germ cells
61
Huntington Disease inheritance incidence
Autosomal dominant | 1/10,000
62
Huntington disease | Parental bias
Early onset - paternal | later onset - maternal
63
Huntington disease | Clinical
Progressive neuronal degeneration causing motor, cognitive, and psychiatric disturbances
64
Huntington | age of onse
35-44
65
Huntington death?
15 yr post onset
66
Huntington | Mutation
``` HTT Huntingtin Cromosome 4p16.3 The expansion of glutmaine may cause an altered structure or biochemical protein property CAG ```
67
CAG Repeat threshold?
>39 full penetrance | >60 juvenile onset
68
Myotonic dystrophy type 1 repeat? incidence parental bias?
CTG 1/20,000 Maternal
69
Myotonic dystrophy 1 | Clinical
``` Adult onset muscular dystrophy Progressive muscle wasting and weakness myotonia cataracts cardiac conduction defects ```
70
Myotonic dystrophy mutation?
DMPK Myotonic dystrophy protein kinase 19q13.3 plays important role in muscle heart and brain
71
Myotonic dystrophy | CTG threshold?
5-34 normal 34-49 premutation >50 full mutation with 100% penetrance

M2M2 (27 decks)

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