Autosomal Dominant Inheritance

Question 1

In retinoblastoma, BRCA mutation and Huntington’s disease, we see _________

Answer 1

Reduced penetrance

Question 2

Name some of the clinical manifestation of Achondroplasia.

Answer 2

1. Rhizomelic limb shortening 2. Short fingers 3. Genu Varum 4. Trident hands 5. Midfacial retrusion 5. Large head 7. Small foramen magnum

Question 3

Name some of the clinical manifestations of Neurofibromatosis Type 1.

Answer 3

1. cafe au lait spots 2. 2 or more neurofibromas 3. 1 plexiform neurofibroma 4. Freckling in the axillary or inguinal area 5. Optic glioma (tumor of the optic nerve) 6. Two or more lisch nodules 7. Distinctive osseous lesions

Question 4

The mutation for neurofibromatotsis is located on _______ gene which is a neurofribomin-tumor suppressor gene located on chromosome _______. This is a loss of function mutation.

Answer 4

NF1, 17

Question 5

What are common manifestations of Marfan’s syndrome?

Answer 5

Tall, thin, long arms, Ectopia Lentis, Aortic root enlargement

Question 6

The mutation for Marfan’s syndrome dis located on _________ on chromosome _________. This is a dominant negative activity mutation (meaning it makes the protein not work as well/ severe reduction in the number of microfibrils)

Answer 6

FBN1; 15

Question 7

Autosomal Dominant Polycystic Kidney Disease is an example of __________

Answer 7

Locus Heterogeneity, where there is a mutation in more than one locus

Question 8

In ADPK disease, ________ have end stage renal disease by 60 years old.

Answer 8

50%

Question 9

The mutations for ADPK disease, the mutations are located on PKD1 on chromosome _____ and ______ and produce a truncated protein.

Answer 9

16; 4

Question 10

What are some of the clinical manifestations of familial hypercholesterolemia?

Answer 10

High cholesterol and LDL levels, Xanthomas, premature coronary artery disease and death

Question 11

The mutation for familial hypercholesterolemia in on the _________ gene and encodes for the LDL receptor on chromosome ________. Basically, cholesterol can no longer be cleared as well.

Answer 11

LDLR gene; chromosome 19

Question 12

What is anticipation?

Answer 12

Meaning the severity of a disease is increased in the next generation

Question 13

Trinucelotide expansion has a ___________ meaning it is more prone to occur in gametogenesis of the male or the female.

Answer 13

parental transmission bias

Question 14

Huntington’s disease is a ___________

Answer 14

Trinucleotide disorder

Question 15

Huntingtons disease is more prominent in _________ and rare in __________

Answer 15

Venezuela; Japan

Question 16

What are the clinical manifestation of Huntington’s disease?

Answer 16

Progressive neuronal degeneration causing motor, cognitive and psychiatric disturbances

Question 17

HD is caused by the expansion of ____________ which causes altered structure or property of the Huntington protein.

Answer 17

Glutamine

Question 18

Neurofibromatosis Type 1 presents with autosomal dominance, 100% penetrance and __________

Answer 18

Variable expressivity