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Genetics Flashcards

1
Q

NF1

A 
Autosomal dominant
Chr17 (50% sporadic)
>6 cafe au lait
>2 lisch nodules
Axillary freckling
Optic glioma
>2 neurofibroma/1 plexiform neurofibroma
Osseous lesion
First degree relative
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2
Q

NF2

A 
Autosomal dominant
Chr22 (50% sporadic)
Bilateral acoustic neuroma
Family history
Cataracts
Meningiomas
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3
Q

Tuberous sclerosis

A 
Autosomal dominant
TS1, TS2 (75% sporadic)
>3 Ash leaf lesions
Infantile spasms
Tubers in brain
Giant cell astrocytoma
Facial adenoma sebaceum
Pitted teeth
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4
Q

Williams

A 
Autosomal dominant
7q11 deletion ELN
Hypercalcaemia
Small
FTT
Bright blue eyes - stellate iris
Supravalvular aortic stenosis
Peripheral pulmonary stenosis
Cocktail personality
Intellectual disability
Developmental delay
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5
Q

ELN point mutation only

A

Autosomal dominant

Supravalvular AS only

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6
Q

Alagille

A 
Autosomal dominant
JAG1, NOTCH2
Short, triangular face
Butterfly vertebrae
Pulmonary stenosis
Conjugated jaundice, paucity of bile ducts
Moya Moya
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7
Q

Bracho-Oto-Renal

A 
Autosomal dominal
EYA1
Sinus/cyst near sternocleidomastoid
Deafness/periauricular tags
Renal malformations
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8
Q

Marfan

A 
Autosomal dominant
FBN1 Ch15
Very tall, arm span > height
Ectopic tennis (upward dislocation of lens)
Aortic aneurysms
MV prolapse
Learning
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9
Q

Ehlers Danlos

A 
Autosomal dominant
COL5A
Tall, easy bleeding
Joint dislocations
Berry aortic aneurysms
Aortic root dilation
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10
Q

Osteogenesis imperfecta

A 
Autosomal dominant
COL1A1, COL1A2
High ALP, hypercalciuria
Short stature
Blue sclera
Hearing loss
Opalescent teeth

Type 1 mild
Type2 lethal
Type 3 progressiove
Type 4 moderate

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11
Q

Stickler syndrome

A 
Autosomal dominant
COL2A1
Cleft palate
Pierre Robin
MV prolapse
SNHL
Hypermobilitiy
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12
Q

Diamond Blackfan Anaemia

A 
Autosomal dominant
Triphalyngeal thumb (long thumb that looks like finger)
Absent thumb
Cataracts
Complication - AML
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13
Q

Von Hippel Lindau

A

Autosomal dominant
VHL Ch3
Multiple tumours - renal*, pancreas, phaeochromocytoma
Haemangioblastomas

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14
Q

Cornelia De Lange

A 
Autosomal dominant
NIPBL, SMC1A (most sporadic)
Monobrow
Hirsutism
Short
Small upturned nose
ASD/VSD
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15
Q

Waardenburg

A

Autosomal dominant
White forelock
Progressive SNHL

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16
Q

Noonan

A 
Autosomal dominant
RASMAPK pathway PTPN11, SOS1 (most sporadic)
Webbed neck
Widely spaced nipples
Wooly hair
Sternal deformity
Pulmonary stenosis**
ASD
HOCM
Associated malignant hypothermia,
Leukaemia
Wilm's
Single gene testing
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17
Q

Costello

A 
Autosomal dominant
RASMAPK pathway HRAS
Big babies
Loose skin on hands and feet, deep palmar crease
FTT
HOCM
Tumour, sick, rhabdo, neuroblastoma
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18
Q

Cardiofasciocutaneous

A 
Autosomal dominant
RASMAPK pathway KRAS
Curly sparse hair
FTT ***
Learning difficulties
Developmental delay
Seziures
HOCM
PS
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19
Q

Treacher Collins

A 
Autosomal dominant
TCOF1
Midface hypoplasia
Cleft palate
Ear/eye anomalies
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20
Q

Alpha 1 antitrypsin deficiency

A 
Autosomal dominant
SERPINA1
Neonatal hepatitis
Jaundice
Pale stools
Hepatomegaly
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21
Q

Achondroplasia

A 
Autosomal dominant
FGFR3 (most sporadic)
Inhibits chondrocyte
Lethal - thanatophoric dwarfism
Telephone handle femur
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22
Q

Apert

A 
Autosomal dominant
FGFR2 (most sporadic)
Craniosynostosis
Exopthalmos
Moderate intellectual disability
Symmetrical syndactyly
Cleft palate
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23
Q

Crouzon

A 
Autosomal dominant
FGFR2
Craniosynostosis
Hydrocephalus
Proptosis
Strabismus
Normal intelligence
Hands, feet
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24
Q

Pfeifer

A

Autosomal dominant
FGFR2
Skull deformity
Deviated short broad thumb and big toe

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25
ADPCKD
``` Autosomal dominant PKD1 Chr16* PKD2 Ch4 Bilateral massive kidneys Multiple cysts ```
26
Familial adenomatous polyposis
Autosomal dominant APC Multiple colonic plyps Screening colonoscopy from 10 yo
27
Li Fraumeni
``` Autosomal dominant p53 Multiple malignancies (sarcoma, breast, leukaemia, adrenal) ```
28
MEN1
Autosomal dominant MEN1 Pancreas, pituitary, parathyroid tumous
29
MEN2A +2B
``` Autosomal dominant RET Phaechromocytoma Parathyroid adenoma Medullary thyroid carcinoma ```
30
Charcot Marie Tooth
``` Autosomal dominant CMT1 PMPZZ Foot drop Ataxia Foot deformity Nerve conduction studies Normal CK Dural nerve biopsy *onion bulb* No treatment ```
31
CHARGE
``` Autosomal dominant CHD7 Coloboma/cranial nerve dysfunction Heart - TOF Chonal Atresia Mental Retardation Genital abnormalities TOF/OA, defect in thyme development ```
32
Hypomelanosis of Ito
Autosomal dominant Hypopigmented whorls Seizures Mental retardation
33
Osler-Weber-Rendu/Hereditary Haemorrhagic Telangiectasia
``` Autosomal dominant Skin lesions AVM GI bleeding Haematuria Recurrent epistaxis ```
34
Gilbert disease
Autosomal dominant Mutation glucoronyltransferase Intermittent painless unconjugated jaundice
35
Peutz-Jeghers
Autosomal dominant Dark spots on lips Risk polyps in GIT with possible malignant transformation
36
Myotonic dystrophy
Autosomal dominant DMPK GTG triplet repeat *Anticipation* (mum) Clench hands difficult to open - check handshake in parents Myotonia, muscle wasting, cataracts, cognitive delay
37
Huntingtons
Autosomal dominant CAG triplet repeat >40 *Anticipation* (Dad) Depression, choreiform movements, caudate atrophy
38
RASMAPK Pathway
Noonans Costello Cardiofasciocutaneous NF1
39
Cystic fibrosis
Autosomal recessive CFTR Chr7 1. G542X most severe - can't make CFTR 2. DF508** most common - can't fold CFTR Rx lumicaftar 3. G551D most treatable - normal CFTR protein but can't transport Rx Ivacaftar 4. R117H most asymptomatic - normal CFTR some transport some can't - incidental finding in fertility testing
40
Wilson's disease
``` Autosomal recessive ATP7B Think in any child with abnormal movements/psychiatric disease + abdominal pain Liver <10yo Neurological >10yo Kayser-Flesher rings Dx: low ceruloplasmin, high urinary copper, liver biopsy to confirm Rx: copper chelation ```
41
Pendred
Autosomal recessive | Congenital SNHL, goitre
42
Fanconi anaemia
``` Autosomal recessive FANCA, FANCB Think if cytopaenia + congenital malformation especially thumbs Aplasia of radius Short Ash leaf/cafe au lait PDA, ASD/VSD, situs invertis AML Dx: anaemia, high HbH, high AFP Chromosomal breakage/fragility studies ```
43
Homocysteinuria
``` Autosomal recessive CB5 Tall and dumb Ectopia lentis (downward dislocation of lens) Malar flushing Livedor reticular Seizures Dx: homocysteine blood/urine, plasma amino acids ```
44
ARPKD
Autosomal recessive PKHD1 both kidneys enlarged cysts throughout Neonate can get POTTERS Hypertension Bilateral flank mass Renal/liver dysfunction DDH/talipes/pulmonary hypoplasia due to severe oligohydramnios
45
Gitelman
Autosomal recessive Defect Na/K transport Nocturia, parenthesis, joint pain Same as thiazide diuretic (low K, low H, high glucose, high uric acid. Low urine calcium)
46
Bartter
``` Autosomal recessive SLC2A1 Polyuria, polydipsia, nephrocalcinosis Low Na, K, Cl High urinary Ca (same as loop diuretic) IVF/replace salts ```
47
Alpha thalassaemia
Autosomal recessive Chr 16 HBA1, HBA1
48
Beta thalassaemia
Autosomal recessive | Chr 11
49
Sickle cell anaemia
Autosomal recessive HBB Risk gallstones
50
Glanzmann
Autosomal recessive | Normal platelet number, can't aggregate
51
Smith-Lemli-Opitz
``` Autosomal recessive DHCR7 Cholesterol synthesis problem Poor growth** Cleft palate Hypotonia Congenital cataracts Absent corpus callosum ID ```
52
Cartilage hair hypoplasia
Autosomal recessive Mini me! dwarfism Thin sparse hair Bone marrow failure - malignancy
53
Carpenter
``` Autosomal recessive Craniosynostosis Fusion of fingers Hearing loss Situs invertus ```
54
Ataxia telangiectasia
``` Autosomal recessive ATM Ataxia Nystagmus Lack of eye movements so moves head Telangiectasia Recurrent sinopulmonary infections Lymphoma Dx high AFP, low IgA Western blot no ATM ```
55
Metachromaticleukodystrophy
``` Autosomal recessive ARSA Hypotonia Distal weakness Absent reflexes ```
56
SMA
``` Autosomal recessive SMN1 5q11 Regression Poor muscle tone Fasciculations Areflexia (LMN signs) ``` Type 1: from birth most severe, never sit Type 1: intermediate, never stand Type 3: shoulder girdle problems, 3-15yo CK normal Biopsy: large gap atrophy
57
Tay Sachs
Autosomal recessive HEXA/HEXB Metabolic Cherry red spots in eye
58
TAR Thrombocytopaenia absent radii
Autosomal recessive | RBM8A
59
Friedrichs ataxia
``` Autosomal recessive FXN GAA triplet repeat *anticipation* Ataxia Vision Speech Hearing Weakness Cardiac - HOCM High arches Scoliosis ```
60
Crigler-Jajjar
Autosomal recessive Type 1: severe jaundice, lifelong phototherapy, liver transplant Type 2: not as severe
61
Kartageners/Primary Ciliary Dyskinesia
``` Autosomal recessive Absent dyenin arms Dextrocardia Sinusitis Bronchiectasis ```
62
Glucose galactose malabsorption
``` Autosomal recessive SGLT1/GLUT1 Severe osmotic diarrhoea, stops when sugar eliminated Renal calculi Glucose hydrogen breath test positive Give fructose based formula ```
63
Congenital chloride diarrhoea
``` Autosomal recessive Mutation in Cl/HCO3 transport Severe dehydration Low Cl Stool Cl +++ ```
64
DKU
``` Autosomal recessive Phenylalanine defect Can't make tyrosine Normal then severe ID, seizures, psych, must odour in urine Low phenylaline diet ```
65
Congenital deafness
Autosomal recessive Connexin 26 gene/GJB2, Connexin 30 gene/GJB6 Normal at birth SNHL 1-6yo Disrupts K+ in ear
66
Downs syndrome
T21 (non-dysjunctional*, mosaic, translocation) 1:600 47XY +21 (non-dysfunctional - related to maternal age) Robertsonian t(14,21), t(21:21), 100% risk passing on Masaic 46XY/47XY+21 Low PAPPA High bHCG Low AFP ``` Associated: ALL, AML 400%, hypothyroidism, duodenal atresia, Hirschprungs, coeliac AVSD/VSD/ASD/PDA/TOF ADHD ID GDD ```
67
Edwards syndrome
``` T18 Non-dysjunctional Rockerbottom feet Syndactyly 2+3 toes No digital creases 3+4 fingers Weak cry, hypertonic Undescended testes ```
68
Patau syndrome
``` T13 Holoprosencephaly Polydactyly Cleft lip/palate No hair on scalp Most die by 1yo ```
69
Turners syndrome
``` 45XO (Mosaic 45XO/46XX) Normal IQ Short Neonates puffy dorsum or hands and feet Webbed neck Widely spaced nipples Delayed puberty, infertility Associated: CoA, bicuspid aortic valve, horseshoe kidney, IBD, diabetes, deafness, JIA, infertility Tx: GH ```
70
Kleinfelters
``` 47XXY Male Thin but female body habitus Long legs Normal IQ Delayed puberty, gynaecomastia Infertility** Psychiatric Associated breast cancer, leukamia IM testosterone ```
71
47XYY
Tall Developmental delay ID/behavioural
72
Triple X
47XXX Normal/mild ID Normal fertility
73
Rett
``` X linked dominant MECP2 (some sporadic) Mostly females, lethal in males Normal development until 6-8mo then language/developmental regression Stereotyped hand movements ```
74
Incontinentia Pigmenti
``` X linked dominant Mostly females, lethal in males Rash Eosinophilia Neonatal seizures Alopecia Wolly hair ```
75
Hyperphosphataemic rickets
X linked dominant
76
DMD
X linked dominant Dystrophin gene (frameshift or nonsense mutation) Proximal myopathy, pseudo hypertrophy calf Dilated cardiomyopathy Dx Western blot, muscle biopsy, CK+++
77
BMD
``` X linked dominant Dystrophin gene (non-frameshift insertion) Later onset Cardiac disease worse Dx Western blot, muscle biopsy ```
78
Adrenoleukodystrophy
``` X linked recessive ABCD1 VLCFA accumulation Dark gums Gait problems ID Behavioural ```
79
Haemophilia A, B
X linked recessive A (factor 8) B (factor 9)
80
Wiscott-Aldrich
X linked recessive Thrombocytopaenia Eczema Immune deficiency
81
G6PD
X linked recessive
82
Menkes
``` X linked recessive ATP7A Connective tissue disease Brittle kinky hair Poor growth Severe developmental delay Seziures Dx: low copper, caeruloplasmin ```
83
Fabry
X linked recessive Corneal opacity Telangiectasia
84
Fragile X
``` X linked recessive CGG triplet repeat on K FMRI (normal <40, pre mutation 55-200, full >200 repeats) *anticipation* Macrocephaly Severe ID Macro-orchidism Eye avoidant Mitral valve prolapse Dx: DNA molecular analysis for size of triplet repeat, PCR/southern blot ```
85
Lesh Nyhan
X linked recessive Self mutilating behaviours e.g. biting lips Gout Motor retardation
86
Impring/uniparental disomy
Diagnosis - DNA methylation studies
87
Prader Willi Syndrome
``` 15q imprinting i.e. paternal deletion or maternal uniparental disomy (most sporadic) Short and fat** ID* Epilepsy Hypogonadism Small hands and feet Autistic like behaviours Think of baby in frog leg position with NGT ```
88
Angelman
``` UBE3A 15q imprinting i.e. maternal deletion or paternal uniparental disomy Happy puppet Hand flapping ID Seizures Microcephaly Ataxic ```
89
Russell Silver
``` No IGF2 11p imprinting i.e. paternal deletion or maternal uniparental disomy (sporadic) Undergrowth Small Cafe au lait Normal/large head Rx GH ```
90
Beckwith Weidermann
``` Double IGF2 11p imprinting i.e. maternal deletion or paternal uniparental disomy (most sporadic) Macrosomia Macroglossia Overgrowth Oomphalocele Undescended testes Hypoglycaemia due to hyper insulinism No ID Risk Wilms tumour (US) and hepatoblastoma (AFP) screen every 3/12 until 8yo ```
91
CATCH22
``` 22q11 Cleft Abnormal face Thymic aplasia (T cell deficiency) Cardiac defects (CoA, TOF, interrupted aortic arch*) Hypocalcaemia (parathyroid hypoplasia) ```
92
22q11 deletion
90% sporadic, TBX1* DiGeorge: cleft palate, thyme aplasia, hypocalcaemia, immune deficiency) Velocardiofacial: face, cleft, cardiac Pierre Robin Sequence: 15% of 22q11 - small jaw, U shaped cleft, glossoptosis
93
Proteus
AKT1 gene | Overgrowth syndrome
94
Omen
RAG1, RAG2
95
Cri Du Chat
``` 5p deletion Microcephaly High pitched crying/meowing Severe ID VSD ```
96
Alport
XLAS, COL4A5
97
McCune Albright
GNAS1 (sporadic) Cafe au lait Fibrous dysplasia of bones Precoccious puberty
98
Miller Deiker
Severe hypotonia | Smooth cortex on MRI
99
Sturge Weber
Facial capillary malformation, glaucoma*, enlargement of eyeball*, seizures, strokes, GDD
100
Sotos
``` NSD1 (AD/most sporadic) Overgrowth DD ADHD/OCD Scoliosis Seizures ```
101
Holoprosencephaly
``` Dysgenesis of corpus collosum Central incisor Bifid uvula Seizures Severe DD Die by 1 ```
102
Goldenhaur
Facial distortion Hearing impairment Epibulbar dermoids (nodule in eye)
103
Usher
Deafness, vision loss
104
VACTERL
``` Vertebral anomalies Anal atresia Cardiovascular (PDA/PO) Tracheo-oEsophageal fistula Renal Limb malformations ```
105
Sensory neural hearing loss
Most common inherited cause - connexin 26
106
Netherton
``` Severe eczema Atopy FTT Recurrent infections Bamboo hair/alopecia ```
107
Churg Strauss
Asthma Eosinophilia Chronic sinusitis
108
Krabbe
Seizures Blind FTT
109
Testing
Chromosomal: FISH, karyotype, microarray Imprinting: DNA methylation studies Mutation: point mutation Known gene defects: single gene analysis
110
Karyotype
Aneuploidy Translocation Sex chromosomes
111
Microarray
DNA duplicated or missing | Good for unbalanced, micro deletions
112
SNP array
Single nucleotide polymorphisms Good for consanguinity Wide genome screen Can't detect balanced rearrangements or point mutations
113
FISH
Specific for micro deletions and duplications Important for risk Fast
114
Triple repeat analysis
PCR for triplet repeat, then southern blot to size
115
MLPA
PCR amplification to area of interest | Good for small deletions/duplications e.g. PWS, Angelman
116
Sanger Sequencing
Can screen for unknown mutation application of target DNA
117
DNA microarray
Single point mutations or deletions in gene
118
DNA methylation
Detects uniparental disomay | If negative = imprinting disorder
119
Blots
Labels to identify DNA/RNA/Protein sNoW DRoP Southern = DNA Northern = RNA Western = Protein
120
Chromosomal Breakage Test
Fanconi anaemia Hereditary Spherocytosis Ataxia Telangiectasia
121
Next Generation Sequencing
Exam sequencing Whole genome sequencying Prenatal chromosomal microarray
122
Skips generations
Recessive
123
All generations
Dominant
124
Consanguinity
Usually recessive
125
Male:Female 1:1
Autosomal
126
Autosomal recessive
usually loss of function mutations | Usually no spontaneous mutations
127
Autosomal dominant
Can also usually be spontaneous mutations
128
AR if both parents carriers
1/4 affected, 1/2 carriers, 1/4 unaffected 2/3 unaffected siblings are carriers If unaffected, 2/3 change of being carrier INCIDENCE = (CARRIER FREQUENCY)~2 x4

Paeds Exam Cram (19 decks)

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