Genetics Flashcards

1
Q

a 35-year-old lady presented with these lesions on her hands and feet -

epilepsy age 7yrs
normal intelligence

Periungual fibromata (tumours around nails) & longitudinal ridging

diagnosis?

A

tuberous sclerosis

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2
Q

tuberous sclerosis is one of the most common ____________

A

tuberous sclerosis is one of the most common GENODERMATOSES

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3
Q

what may tuberous sclerosis present with in infants?

A

infantile seizures

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4
Q

what is the earliest cutaneous sign in tuberous sclerosis?

A

ash-leaf macule

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5
Q

tuberous sclerosis is autosomal ________

A

tuberous sclerosis is autosomal DOMINANT

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6
Q

what are the facial tumours called in tuberous sclerosis and where are they most commonly found on the face?

A

facial angiofibromas

nasal labial folds

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7
Q

________ patches and ______ pitting may also be seen in tuberous sclerosis

A

SHAGREEN patches and ENAMEL pitting may also be seen in tuberous sclerosis

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8
Q

what causes the epilepsy/seizures in tuberous sclerosis?

A

cortical tubers

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9
Q

name the 2 important proteins and 2 important chromosomes in tuberous sclerosis

A

tuberin (chromosome 9) and hamartin (chromosome 16)

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10
Q

mTOR control what?

A

mTOR control cell division

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11
Q

what is the treatment for tuberous sclerosis?

A

topical rapamycin treatment

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12
Q

what has a:

(a) high penetrance but low frequency
(b) low penetrance but high frequency

A

(a) mutations - mendelian disorders

(b) SNPS and CNVs - common disorders

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13
Q

born at term after normal pregnancy

some skin loss noted

24 hours later - widespread blistering and skin loss

diagnosis?

A

epidermolysis bullosa (EB)

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14
Q

name the 3 types of EB

A

simplex
junctional
dystrophic

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15
Q

EB aquisita is a ____ __________ condition

A

EB aquisita is a RARE AUTOIMMUNE condition

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16
Q

autosomal dominant:

disease is seen in ___ generations

__% risk of affected child if parent is affected

A

autosomal dominant:

disease is seen in ALL generations

50% risk of affected child if parent is affected

17
Q

autosomal recessive:

disease is often only seen in ___ generation

__% risk of affected child if parent is affected

A

autosomal recessive:

disease is often only seen in ONE generation

25% risk of affected child if parent is affected

18
Q

14 year old boy presents with multiple asymptomatic coffee coloured flat marks which have been appearing over the last few years

general health is good with slight learning difficulties

diagnosis?

A

neurofibromatosis type 1

19
Q

more than how many cafe au lait macules suggest genetic disease?

A

> 5

20
Q

what are neurofibromas?

A

soft neural tumours

21
Q

name the features of NFT1

A
cafe au lait
neurofibromas
plexiform neuroma
axillary or inguinal freckling
optic glioma
2 or more Lisch nodules
a distinctive bony lesion
22
Q

name the important protein in NFT1

A

neurofibromine

23
Q

name the treatment for neurofibromatosis

A

MEK inhibitors

24
Q

baby develops red, roughened patched sos skin at 2 weeks of age

at 9 months of age, the child’s skin is itchy & broken; sleep is disturbed because of scratching

throughout childhood there are itchy red patches of skin that come & go

diagnosis?

A

atopic eczema

25
Q

name the important gene in atopic eczema and what mutations in it cause

A

filaggrin

mutations cause ichthyosis vulgaris (hyperliner palms)