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Human Genetics Spring 2023 > RASopathies > Flashcards

RASopathies Flashcards

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1
Q

What are the clinical characteristics of NF1?

A

CALM
Intertriginous freckling
Neurofibromas
Plexiform neurofibromas
Iris Lisch Nodules
Osseous dysplasia
Optic glioma
No/mild ID

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2
Q

What are the clinical characteristics of Noonan syndrome?

A

Craniofacial abnormalities
Short stature
Undescended testes
Ophthalmologic abnormalities
Bleeding disorders
Normal to mild ID
Predisposition to cancer

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3
Q

What is the mechanism of NF1?

A

Loss-of-function

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4
Q

What is the most common frequent gene in Noonan syndrome?

A

PTPN11 (50%)

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5
Q

What are the features of Costello syndrome?

A

CF like Noonan but more coarse
CHD
FTT
Short stature
Eye abnormalities
Multiple skin manifestations (papillomata)
No/mild ID
Hypotonia
Predisposition to cancer

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6
Q

What are the features of CFC?

A

CF like Noonan
CHD
FTT
Short stature
Eye abnormalities
Multiple skin manifestations (nevi)
No/mild ID
Hypotonia
Unclear predisposition to cancer

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7
Q

What are the most common genes associated with CFC?

A

BRAF (75%)
MAP2K1 and MAP2K2 (25%)
KRAS (<2%)

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8
Q

What are the cardiac findings in Noonan syndrome?

A

Pulmonic valve stenosis (20-50%)
HCM (20-30%)
ASD and VSD
Pulmonary artery stenosis
ToF

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9
Q

What are the features of Legius?

A

CALM
Intertriginous freckling
Normal or mild ID
No apparent predisposition to cancer

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10
Q

What gene is associated with Legius?

A

SPRED1

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11
Q

What disorders have Cafe-au-lait macules?

A

Fanconi anemia
Legius
NF1
McCune-Albright
Noonan
Silver-Russel
Constitutional mismatch repair deficiency
Carney complex

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12
Q

What gene is associated with Costello syndrome?

A

HRAS

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13
Q

A patient has papillomata and deep plantar creases. What do you suspect?

A

Costello syndrome

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14
Q

A patient has short stature and pulmonary valve stenosis. What do you suspect?

A

Noonan syndrome

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15
Q

A patient has eczema and heart problems and coarse features. What do you suspect?

A

CFC

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16
Q

What are the most common heart concerns in Costello syndrome?

A

Arrhythmia
HCM
Pulmonic stenosis

17
Q

What are the most common heart concerns in Noonan syndrome?

A

Pulmonary valve stenosis
HCM

18
Q

What are the most common heart concerns in CFC syndrome?

A

Pulmonic stenosis
ASD
HCM

Human Genetics Spring 2023 (12 decks)

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