Genetics

Question 1

What genetic skin disorder is linked with epilepsy

Answer 1

Tuberose Sclerosis

Question 2

What is the earliest cutaneous sign of tuberose sclerosis

Answer 2

ash-leaf macule

Question 3

Tuberose Sclerosis is autosomal dominant. True or false

Answer 3

True

Question 4

What does Tuberose Sclerosis appear as

Answer 4

Periungual fibromata (around nails) and longitudinal ridging

Question 5

What should be used to check for Ash leaf macules

Answer 5

A wood Lamp

Question 6

Where all can tuberose sclerosis tumours appear

Answer 6

Around nails, face, heart, lung, kidneys, bones

Question 7

What are angiofibromas often misdiagnosed as

Answer 7

Acne

Question 8

At what age do angiofibromas start to develop

Answer 8

In the first few years of life

Question 9

What are some other clinical features of tuberose sclerosis

Answer 9

Enamel pitting 
Shagreen patches  (overgrowth of connective tissue)

Question 10

What 2 genes are involved in tuberose sclerosis

Answer 10

TSC1 and TSC2

Question 11

What do TSC1 and TSC2 code for

Answer 11

tuberin and hamartin

Question 12

You need to have a fault in both TSC1 and TSC2 to be affected. True or False

Answer 12

False - either will cause a phenotype

Question 13

How might a patient seem to randomly have Tuberose Sclerosis with no family history of this

Answer 13

A person in the family may show non-penetrance (has the mutation but does not show clinical signs of having the disease)

Question 14

What changes can occur to the TSC1 or TSC2 genes to cause an individual to be affected

Answer 14

Delete entire gene
Premature stop
Altered splice site
Changed amino acid

Question 15

What can help patients with Tuberose Sclerosis in the lung

Answer 15

mTOR inhibitors

Question 16

What is Epidermolysis Bullosa (EB)

Answer 16

A group of genetic skin fragility conditions

Question 17

Describe EB in terms of inheritance

Answer 17

Dominant, recessive, new mutation or acquired

Question 18

What are the 3 different types of EB

Answer 18

Simplex
Junctional
Dystrophic

Question 19

What does simplex EB affect

Answer 19

the way that keratinocytes bind in the epidermis

Question 20

What does junctional EB affect

Answer 20

the demo epidermal junction

Question 21

what does dystrophic EB affect

Answer 21

proteins in the dermis

Question 22

What can be seen in Dystrophic EB

Answer 22

Losing the ends of fingers and fingers and toes start to join together and loss of function of the digits

Question 23

How many genes are involved in EB

Answer 23

10

Question 24

What is meant by haploinsufficiency

Answer 24

only one copy of working gene causing reduced protein production

Question 25

What is meant by dominant negative

Answer 25

expression of abnormal protein interferes with normal protein

Question 26

What is meant by gain of function

Answer 26

mutant protein gains a new function, affecting cell processes

Question 27

What is meant by complete loss of protein

Answer 27

Autosomal recessive - 2 faulty copies of gene produce no protein

Question 28

How many cafe au last merciless suggests genetic disease

Answer 28

more than 5

Question 29

What might be affected by Neurofibromatosis type 1

Answer 29

soft neural tumours axillary or inguinal freckling Optic glioma 2 or more Lisch nodules a distinctive bony lesion

Question 30

What 2 genes influence Eczema

Answer 30

Interleukin 4 and interleukin 13

Question 31

What does filaggrin do

Answer 31

It is a skin barrier gene - loss of function mutations are common - 1 in 10 are affected

Question 32

What do filaggrin mutations cause

Answer 32

ichthyosis vulgaris