Genetics Flashcards

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1
Q

List the clinical features of tuberose sclerosis

A

Epilepsy, seizures
Periungual fibromata
Longitudinal ridging
Ash-leaf macule

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2
Q

Tuberose sclerosis is autosomal recessive. True/False?

A

False

Autosomal dominant

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3
Q

What is meant by non-penetrance?

A

Having the mutation but not having features of the disease

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4
Q

In autosomal dominance, what is the % risk of affected child if a parent is affected?

A

50%

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5
Q

Which genes become mutated to cause tuberose sclerosis?

A

TSC1
TSC2
N.B. only either 1 or 2 becomes mutated

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6
Q

Which inhibitors partially correct tuberose sclerosis?

A

mTOR inhibitors

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7
Q

Tuberose sclerosis is a common disorder. True/False?

A

False

It is a high penetrance Mendelian disorder (so not common)

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8
Q

What is epidermolysis bullosa?

A

A group of genetic skin fragility conditions involving blistering and erosion

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9
Q

Simplex EB affects ?Junctional EB affects ?Dystrophic EB affects ?

A

Simplex EB affects epidermis
Junctional EB affects DEJ
Dystrophic EB affects dermis

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10
Q

What is meant by haploinsufficiency disease?

A

One gene can’t produce the protein, so you end up with less protein overall

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11
Q

What is the most common genetic dermatological condition? What inheritance pattern does it have?

A

Neurofibromatosis type 1

Autosomal dominant

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12
Q

How does a mutated NF1 gene cause neurofibromatosis?

A

NF1 is responsible for switching off cell cycle

Mutated NF1 therefore promotes excessive cell proliferation

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13
Q

List clinical features of neurofibromatosis

A

Café-au-lait macules
Neurofibromas
Axillary/inguinal freckling
Lisch nodules

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14
Q

What is the protein mutated in atopic eczema? What does it affect?

A

Filagrin

Skin barrier function due to lack of keratohyalin granules

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