Genetics

Question 1

What does precision medicine allow?

Answer 1

Identify a group of patients who will benefit from treatment and exclude those who wont or get side effects

Question 2

What is precision medicine most effective in?

Answer 2

Rare diseases and high penetrance mutations

Question 3

What does tuberous sclerosis present as?

Answer 3

Infantile seizures

Ash leaf macule

Question 4

What inheritance pattern is tuberous sclerosis?

Answer 4

Autosomal dominant

New mutations can occur

Question 5

What tumours are common in tuberous sclerosis?

Answer 5

Periungual fibromas
Facial angiofibromas
Cortical tumours
Hamartomas

Question 6

What skin signs are present in tuberous sclerosis?

Answer 6

Shagreen patches

Enamel pitting

Question 7

What is a hamartomas?

Answer 7

Over growth of normal tissue: heart, lung, kidney

Question 8

What genes and chromosomes are involved in tuberous sclerosis?

Answer 8

Chromosomes 9q34 and 16p13.3

Genes TSC1 and TSC2

Code for tuberin and hamartin

Question 9

What is the biggest factor for inheriting new mutations?

Answer 9

How old the father ill spermatozoa have more mutations with age

Question 10

What is epidermolysis bullosa and its inheritance pattern?

Answer 10

Genetic skin fragility conditions

Dominant, recessive, new mutation or acquired

Question 11

What are the three main types of epidermolysis bullosa?

Answer 11

Simplex
Junctional
Dystrophic

Question 12

Describe simplex epidermolysis bullosa

Answer 12

Split within the epidermis, keratinocytes start to fall apart, surface of a blister is upper epidermis.

Normal lifespan, blister easily

Question 13

Describe junctional epidermolysis bullosa

Answer 13

Skin is fragile, everyday knocks cause blisters or raw areas

Lifespan is variable

Fault in proteins anchoring epidermis and dermis

Question 14

Describe dystrophic epidermolysis bullosa

Answer 14

Split is in dermis
Complicated by scarring

Not enough type 7 collagen, epidermis not held to dermis

Can happen in mouth digestive tract and eyes

Question 15

Define haploinsufficiency

Answer 15

Only one copy working, reduction in protein production

Question 16

Define dominant negative

Answer 16

Expression of abnormal protein interferes with normal protein

Question 17

Define gain of function

Answer 17

Mutant proteins gain a new function, affecting cell processes

Question 18

Define complete loss of protein

Answer 18

Autosomal recessive- 2 faulty copies -> no protein

Question 19

What are the features of Neurofibromatosis type 1?

Answer 19

• Cafe au lait
• Neurofibromas
• Plexiform neuroma
• Axillary or inguinal freckling
• Optic glioma
• 2 of more lisch nodules
• A distinctive bony lesion

Question 20

What targeted therapy is used in NF1?

Answer 20

MEK inhibtors

Question 21

What genetic factors are behind skin barrier function in eczema?

Answer 21

Filaggrin

Question 22

What genetic factors are behind immunology of eczema?

Answer 22

IL-4, IL-13

Question 23

What do filaggrin mutations cause?

Answer 23

Ichythyosis vulgaris