Genetics Flashcards

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1
Q

What genetic skin disorder is linked with epilepsy

A

Tuberose Sclerosis

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2
Q

What is the earliest cutaneous sign of tuberose sclerosis

A

ash-leaf macule

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3
Q

Tuberose Sclerosis is autosomal dominant. True or false

A

True

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4
Q

What does Tuberose Sclerosis appear as

A

Periungual fibromata (around nails) and longitudinal ridging

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5
Q

What should be used to check for Ash leaf macules

A

A wood Lamp

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6
Q

Where all can tuberose sclerosis tumours appear

A

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

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7
Q

What are angiofibromas often misdiagnosed as

A

Acne

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8
Q

At what age do angiofibromas start to develop

A

In the first few years of life

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9
Q

What are some other clinical features of tuberose sclerosis

A
Enamel pitting 
Shagreen patches  (overgrowth of connective tissue)
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10
Q

What 2 genes are involved in tuberose sclerosis

A

TSC1 and TSC2

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11
Q

What do TSC1 and TSC2 code for

A

tuberin and hamartin

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12
Q

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

A

False - either will cause a phenotype

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13
Q

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

A

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

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14
Q

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

A

Delete entire gene
Premature stop
Altered splice site
Changed amino acid

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15
Q

What can help patients with Tuberose Sclerosis in the lung

A

mTOR inhibitors

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16
Q

What is Epidermolysis Bullosa (EB)

A

A group of genetic skin fragility conditions

17
Q

Describe EB in terms of inheritance

A

Dominant, recessive, new mutation or acquired

18
Q

What are the 3 different types of EB

A

Simplex
Junctional
Dystrophic

19
Q

What does simplex EB affect

A

the way that keratinocytes bind in the epidermis

20
Q

What does junctional EB affect

A

the demo epidermal junction

21
Q

what does dystrophic EB affect

A

proteins in the dermis

22
Q

What can be seen in Dystrophic EB

A

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

23
Q

How many genes are involved in EB

A

10

24
Q

What is meant by haploinsufficiency

A

only one copy of working gene causing reduced protein production

25
Q

What is meant by dominant negative

A

expression of abnormal protein interferes with normal protein

26
Q

What is meant by gain of function

A

mutant protein gains a new function, affecting cell processes

27
Q

What is meant by complete loss of protein

A

Autosomal recessive - 2 faulty copies of gene produce no protein

28
Q

How many cafe au last merciless suggests genetic disease

A

more than 5

29
Q

What might be affected by Neurofibromatosis type 1

A

soft neural tumours

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

30
Q

What 2 genes influence Eczema

A

Interleukin 4 and interleukin 13

31
Q

What does filaggrin do

A

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

32
Q

What do filaggrin mutations cause

A

ichthyosis vulgaris