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Flashcards in Genetics Deck (13)
1

List the clinical features of tuberose sclerosis

Epilepsy, seizures
Periungual fibromata
Longitudinal ridging
Ash-leaf macule

2

Tuberose sclerosis is autosomal recessive. True/False?

False
Autosomal dominant

3

What is meant by non-penetrance?

Having the mutation but not having features of the disease

4

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

50%

5

Which genes become mutated to cause tuberose sclerosis?

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

6

Which inhibitors partially correct tuberose sclerosis?

mTOR inhibitors

7

Tuberose sclerosis is a common disorder. True/False?

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

8

What is epidermolysis bullosa?

A group of genetic skin fragility conditions involving blistering and erosion

9

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

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

10

What is meant by haploinsufficiency disease?

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

11

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

Neurofibromatosis type 1
Autosomal dominant

12

How does a mutated NF1 gene cause neurofibromatosis?

NF1 is responsible for switching off cell cycle
Mutated NF1 therefore promotes excessive cell proliferation

13

List clinical features of neurofibromatosis

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