Genetics

Question 1

Tuberous sclerosis

Answer 1

Autosomal dominant genodermatosis

Question 2

Features of tuberous sclerosis

Answer 2

Infantile seizures
Ashleaf macules
Peirungual fibromas (around nails)
Facial angiofibromas
Hamartomas (angiomolipomas)
Bone cysts
Shagreen patches
Enamel pitting
Cortical tubers = epilepsy/mental impairment

Question 3

Mutations in tuberous sclerosis

Answer 3

TSC1 - codes for tuberin (chromosome 9)

TSC2 - codes for hamartin (chromosome 16)

Question 4

Non-coding part of gene

Answer 4

Introns (spliced out)

Question 5

Tuberous sclerosis shows:

Answer 5

Heterogeneity (different mutations can happen)

Question 6

Tuberous sclerosis has a ______ penetrance

Answer 6

High penetrance (Mendelian)

Question 7

Epidermolysis Bullosa

Answer 7

Dominant/Recessive/New genetic skin fragility condition

Question 8

EBS

Answer 8

Autosomal Dominant
Often presents in adulthood
FH of easy blistering

Question 9

JEB

Answer 9

DEJ disturbed

Question 10

EBD

Answer 10

Affects proteins in dermis

Heals wtih scarring, fingers join, can lose digits

Question 11

Haploinsufficiency

Answer 11

Only one copy of working gene = reduced protein

Question 12

How many cafe au lait macules suggest genetic disease

Answer 12

Over 5

Question 13

NF1 features

Answer 13

Cafe au lait macules
Neurofibromas
Axillary/inguinal freckling
Lisch nodules
Bony cysts on skull

Question 14

Eczema mutation

Answer 14

Filagrin gene

Question 15

Loss of function mutations in FLG cause:

Answer 15

Ichthyosis vulgaris - scaling, keratosis, smooth skin, dry

Atopic eczema