Genetics Flashcards

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1
Q

What can tuberous sclerosis present as?

A

Infantile seizures

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2
Q

Earliest cutaneous sign of tuberous sclerosis

A

Ash-leaf molecule (depigmented macules)

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3
Q

Tuberous sclerosis is autosomal dominant/recessive

A

Autosomal dominant but new mutations are common

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4
Q

Tumours of tuberous sclerosis

A
Periungal fibromas - around nails
Facial angiofibromas
Cortical tubers and/or calcification of the flax cerebri
Hamartomas
Angiomyolipomas
Bone cysts
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5
Q

Skin signs of tuberous sclerosis

A

Ash-leaf molecule
Shagreen patches
Enamel pitting

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6
Q

What are shagreen patches?

A

Fibrous hamartomas in the skin

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7
Q

Hamartoma

A

Overgrowth of normal tissue

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8
Q

Where is the mutation in tuberous sclerosis?

A

TSC1 or TSC2 which code for tuberin and hamartin

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9
Q

What is epidermolysis bullosa?

A

A group of genetic skin fragility conditions

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10
Q

3 main types of epidermolysis bullosa

A

Simplex
Junctional
Dystrophic

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11
Q

Which part of the skin does simplex epidermolysis bullosa affect?

A

The dermis

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12
Q

Which part of the skin does junctional epidermolysis bullosa affect?

A

Dermo-epidermal junction

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13
Q

Which part of the skin does dystrophic junctional epidermolysis bullosa affect?

A

The dermis

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14
Q

What is haploinsufficiency disease mechanism?

A

Only one copy of the gene is working leading to decreased protein production

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15
Q

What does dominant negative mean?

A

The expression of abnormal protein interferes with normal protein

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16
Q

What does gain of function mean?

A

Mutant protein gains a new function, affecting all cell processes

17
Q

What is complete loss of protein?

A

Autosomal recessive where 2 faulty copies of the gene produce no protein

18
Q

How many cafe au lait macules suggest genetic disease?

A

> 5

19
Q

Clinical features of neurofibromatosis type I

A
Cafe au lait macules and neurofibromas
Axillary or inguinal freckling
Optic glioma
Plexiform neuroma
2 or more Lisch nodules
Distinctive bony lesion
20
Q

What are cafe au lait macules?

A

Birthmarks