1RCPCH TAS > Genetics > Flashcards

Genetics Flashcards

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1
Q

What are the typical facial features in Williams syndrome?

A

Broad forehead
Microcephaly
Periorbital fullness
Stellate pattern in iris
Wide mouth
Prominant upper lip

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2
Q

What investigations other than genetics should be done in Prader-Willi Syndrome?

A

Fasting IGF-1
Bone profile
TFTs
MRI brain (hypopituitarism)
Dual x-ray absorptiometry scans

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3
Q

What is the incidence of Williams syndrome?

A

1 in 7500-20000 live births

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4
Q

Which significant gene is encoded in the microdeletion in Williams syndrome?

A

ELN - encodes elastin which is vital in normal cardiovascular and connective tissue function

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5
Q

What are the typical symptoms in Prader-Willi Syndrome beyond infancy?

A

Intial feeding difficulties followed by hyperphagia and weight gain
Short stature
Small hands and feet
Facial features
Hypogonadism
Learning difficulties
Behavioural difficulties

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6
Q

What genetic defect causes 30% of cases of Prader-Willi Syndrome?

A

Maternal uniparental disomy of chromosome 15

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7
Q

What are the facial manifestations of Marfan syndrome?

A

Enophthalmos
Down-slanting palpebral fissue
Malar hypoplasia
Retrognathia
High, narrow-arched palate and dental overcrowding

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8
Q

What pharamacological management may be needed in Prader-Willi Syndrome?

A

GH therapy
Calcium and vitamin D supplements
Management of any associated comorbidities

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9
Q

What are the MSK manifestations of Marfan syndrome?

A

Tall stature with disproportionally long limbs
Arachnodactyly
Pectus carinatum or excavatum
Scoliosis
Pes planus

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10
Q

What is the function of Fibrillin-1 (FNB1)?

A

Helps produce cellular microfibrils
Regulates TGF-Beta

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11
Q

What investigations should be done in suspected Marfan syndrome?

A

Molecular gene testing
ECG and Echo
Cardiac MRI or CT
Eye assessment
Pelvic x-ray
MRI spine

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12
Q

What are the facial features of Prader-Willi Syndrome?

A

Narrow forehead
Almond-shaped eyes
Thin upper lip
Down-Turned mouth

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13
Q

How is Williams syndrome diagnosed?

A

FISH or microarray which shows the 7q11.23 microdeletion

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14
Q

What is the greatest risk to life in an individual with Marfan syndrome?

A

Cardiovascular with aortic root dissection

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15
Q

What are the cardiac manifestations of Marfan syndrome?

A

Aortic root dilatation and dissection
Mitral valve prolapse

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16
Q

What genetic defect causes 70% of cases of Prader-Willi Syndrome?

A

Deletion on paternal chromosome 15q11-q13

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17
Q

What genetic mutation occurs in Marfan syndrome?

A

Missence mutations on 15q21

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18
Q

What are the typical features of Williams syndrome?

A

Hypercalcaemia
Facial dysmorphism
Supravalvular aortic stenosis
Intellectual disability
Unique behavioural profile

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19
Q

What are the ophthalmological manifestations of Marfan syndrome?

A

Ectopia lentis
Myopia

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20
Q

Marfan syndrome has a systemic score based on present features. What does this score typically have to be above for a diagnosis to be made?

A

7 or higher

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21
Q

What is the incidence of Prader-Willi Syndrome?

A

1 in 15000 - 1 in 30000

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22
Q

What other conditions are associated with Prader-Willi Syndrome?

A

Diabetes
Hypothyroidism
OSA
Scoliosis
Osteoporosis

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23
Q

What are the dermatological manifestations of Marfan syndrome?

A

Striae

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24
Q

How is Prader-Willi Syndrome diagnosed?

A

Clinical presentation plus genetic testing:
FISH analysis
DNA methylation-specific testing detects abnormal parent-specific imprinting

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25
What is the inheritance pattern of Marfan syndrome?
AD with complete penetrance
26
Which genetic abnormality is associated with Williams syndrome?
Microdeletion on chromosome 7q11.23
27
What is the incidence of Marfan syndrome?
2-3 per 10000
28
What are the pulmonary manifestations of Marfan syndrome?
Spontaneous pneumothorax Apical Bullae
29
What is the typical behavioural profile in Williams syndrome?
Affinity for music Empatehtic and outgoing Anxiety
30
What gene does the mutation in Marfan syndrome code for?
FBN1 - an elastin matrix glycoprotein
31
What is the thumb sign in Marfan syndrome?
When a fist is made with the thumb bent into the palm, the thumb can be seen beyond the little finger
32
What is usually the first presenting feature of Prader-Willi Syndrome?
Severe neonatal hypotonia
33
What is the gender predominance in Kallman syndrome?
M>F
34
What is the inheritance pattern of Kallman syndrome?
1/3 inherited (AD, AR and X-linked all implicated) 2/3 sporadic
35
Which gene is associated with Kallman syndrome?
KAL1 gene
36
What does the KAL 1 gene encode for
Anosmin-1
37
What is the pathophysiology associated with abnormal anosmin-1?
Abnormal migration of cells on the olfactory bulb and GnRH which migrates the same way also affected
38
What are the presenting features in Kallman syndrome?
Absent or incomplete puberty Anosmia
39
What lab tests should be performed in suspected Kallman syndrome?
Cortisol, ACTH and U&Es Testosterone/Oestradiol FSH and LH TFTs IGF-1 and IGFBP3
40
What imaging should be performed in Kallman syndrome?
Echo - screening for CHD MRI brain may be useful and show abnormal olfactory tract
41
How is Kallman syndrome managed?
Supportive therapy by MDT GH if deficient Gonadal steroid replacement post-puberty Surgical correction of CHD if present and needed
42
What is the genetic defect associated with Cri-du-Chat syndrome?
Deletion on the short arm of chromosome 5 (5p)
43
What are the typical characteristics in an individual with Cri-du-Chat syndrome?
Catlike high pitched cry Growth failure Facial abnormalities Intellectual disability
44
What are the facial abnormalities associated with Cri-du-Chat syndrome?
Microcephaly and micrognathia Down-slanting palpebral fissures Flat nasal bridge Low set ears Round face with full cheeks Widely spaced and crossed eyes Down turned mouth
45
What cardiac defects are associated with Cri-du-Chat syndrome?
ASD and VSD
46
How is fragile-X syndrome inherited?
X-linked dominant repeat expansion disorder
47
Which gene is implicated in Fragile X syndrome?
FMR1 gene on chromosome Xq27.3
48
What is the difference between boys and girls affected by Fragile X syndrome?
All boys are affected, 50% of girls are affected and less severly so
49
What does the FMR1 gene encode for?
FMRP - a ribonucleic acid binding protein than regulates protein synthesis
50
What is the typical presentation of Fragile X syndrome?
Developmental delay IQ <70 Facial abnormalities Macro-orchidism Seizures MSK abnormalities ADHD and ASD Anxiety
51
What are the characteristic facial features in Fragile X syndrome?
High forehead Asymmetry Large jaw Long ears Dental overcrowding High-arched palate
52
What are the MSK associations with Fragile X syndrome?
Hyper-extensible finger joints Pes planus Pectus excavatum Joint laxity and dislocations Scoliosis
53
What cardiac defect can be associated with Fragile X syndrome?
Mitral valve prolapse
54
What is the life expectancy in someone affected with Fragile X syndrome?
Normal
55
How is Noonan syndrome inherited?
AD
56
What is the most common genetic mutation associated with Noonan syndrome?
PTPN11 on chromosome 12
57
What are the 2nd and 3rd most common genetic mutations associated with Noonan syndrome?
SOS1 on chromosome 2 RAF1 gene on chromosome 3
58
What are the facial features associated with Noonan syndrome?
Triangular-shaped face Hypertelorism Down-slanting palpebral fissures Low set ears Micrognathia Short/webbed neck
59
What are the CHDs associated with Noonan syndrome?
Pulmonary valve stenosis (most common) HCOM ASD VSD
60
What are the ocular findings associated with Noonan syndrome?
Strabismus Ptosis Amblyopia Refractive errors
61
What is the medical management of Noonan syndrome?
GH treatment if indicated Treatment of any associated disorders
62
Which cancer is rarely associated with Noonan syndrome?
Juvenile myelomonocytic leukaemia
63
What are the typical features of Noonan syndrome?
Feeding issues in neonatal period CHD Short stature Typical facial features Ocular features Widely spaced nipples Wide carrying angle Mild LD in some
64
What is the inheritance pattern of Cowden Syndrome?
AD with variable expressitivity
65
What genetic mutation is typically associated with Cowden Syndrome?
PTEN mutations
66
What is the PTEN gene?
Tumour supressor gene
67
What are the typical presenting features of Cowden Syndrome?
Skin lesions - hamartomatous neoplasms Thyroid lesions GI abnormalities
68
What is the inheritance pattern of Cockayne syndrome?
AR inheritance
69
What is the genetic abnormality in Cockayne syndrome?
Germline mutations in ERCC6 or ERCC8 genes
70
What does abnormal ERCC6 or ERCC8 gene expression lead to?
DNA repair failure with transcription-replication conflicts and mitochondrial dysfunction
71
What are the typical characteristics of an individual with Cockayne syndrome?
Microcephaly SN hearing loss Cutaneous photosensitivity Retinal degeneration Neurological degeneration Premature aging
72
Which is the most severe form of Cockayne syndrome?
Type 2
73
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