Autosomal Dominant Disorders Flashcards Preview

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Flashcards in Autosomal Dominant Disorders Deck (20):
0

What are characteristics of an autosomal dominant disorder?

- No skipped generations
- males and females equally effected
- 25% AA (severely affected), 50% Aa (affected), 25% aa (unaffected)
- some with variable expressively and penetrance may see reduced penetrance
- 50:50 recurrence risk for children born to affected individual
- new mutations common due to germ line mutations in >35 fathers

1

What is the autosomal dominant disorder where deletion of NF1 gene at 17q11.2 causes RAS-GTP lock in "on" position?

Neurofibromatosis Type 1

2

What autosomal dominant disorder has a recurrent risk of 1/3500?

Neurofibromatosis Type 1

3

What autosomal dominant disorder has the following phenotype:
- Cafe-au-lait spots
- axillary/inguinal freckling
- neurofibromas (benign tumors of the cell sheaths around PNS nerves)
- Lisch nodules (iris hemartomas)
- bony lesions
- increased risk of gioblastomas, pheochromocytomas, and myelogenous leukemias
- could progress to neurofibrosarcomas

Neurofibromatosis Type 1

4

What autosomal dominant disorder has the following treatments/diagnosis:
- genetic family testing usually not done because symptoms are specific

Neurofibromatosis Type 1

5

What autosomal dominant disorder is 100% penetrant, highly variable expressivity, new mutations account for 50% of all cases?

Neurofibromatosis Type 1

6

What autosomal dominant disorder is the result of FBN1 gene affecting the fibrillin protein?

Marfan's Syndrome

7

What autosomal dominant disorder has a 1/5000 to 1/10,000 recurrence risk?

Marfan's Syndrome

8

The following phenotype is characteristic of what autosomal dominant disorder:
Ectopia Lentes, dilated aortic root, dural ectasia, at least four of the following skeletal changes: pectus carinatum, pectus excavatum, wrist and thumb signs, scoliosis of >20%, reduced extension at the elbows, protrusio acetabulae, arm span to height ratio >1.05

Marfan's Syndrome

9

What autosomal dominant disorder is highly penetrant, rare germ line mosaicism, 25% de novo

Marfan's Syndrome

10

What autosomal dominant disorder has an LDL (low density lipoprotein) receptor mutation?

Familial Hypercholesterolemia

11

What autosomal dominant disorder has a recurrence risk of 1/500?

Familial hypercholesterolemia

12

What dominant autosomal disorder has the following phenotype:
- atherosclerosis (M1/stroke), skin xanthomas

Familial hypercholesterolemia

13

What autosomal dominant disorder can be diagnosed using a serum LDL test?

Familial hypercholesterolemia

14

In what autosomal dominant disorder are tests to determine difference in affected genes are not done unless the cholesterol level is at ~2,000

Familial hypercholesterolemia

15

In what autosomal dominant disorder does FGFR3 activation of function mutation= inhibition of bone growth, 98% of mutations are G1138A

Achondroplasia

16

What autosomal dominant disorder has a recurrence risk of 1/15,000 to 1/40,000?

Achondroplasia

17

What autosomal dominant disorder has the following phenotype:
- short stature, rhizomelic shortening of arms and legs, macrocephaly, and facial features with frontal bossing, normal IQ, CNS complications from small foramen magnum?

Achondroplasia

18

What autosomal dominant disorder is a common form of short limbed dwarfism, 80% de novo- 100% from fathers germ line, homozygosity= lethal

Achondroplasia

19

What are examples of autosomal dominant disorders?

Neurofibromatosis Type 1
Marfan's Syndrome
Familial hypercholesterolemia
Achondroplasia