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FRACP 2023 Cram Homicrons Edition > Genetics/Syndromes > Flashcards

Genetics/Syndromes Flashcards

(113 cards)

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1
Q

CHARGE

A

CHARGE syndrome.
CHD7 gene- most sporadic
C (coloboma)
H (congenital heart defects)
A (choanal atresia)
R (retardation of growth/developmental)
G (genital anomalies)
E (ear anomalies or deafness.)

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2
Q

VACTERL association

A

VACTERL
- Due to disruption in early embryogenesis

V (vertebral defects)
A (anal atresia)
C (cardiac defects)
T (tracheo-oesphageal defects)
R (renal anomalies)
L (limb abnormalities.)

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3
Q

Rubenstein-Taybi

A

Microdeletion chromosome 16
- Short stature
- Mod-severe ID
- Broad fingers/toes gap
- Facial features as per pic

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4
Q

DiGeorge

A

CATCH22

2q11.1 deletion syndrome

C- heart defects
A-
T- Thymic hypoplasia, absent T/B cells
C- Cleft palette
H- Hypocalcemia
poor immune system function, cleft palate, hypocalcaemia and delayed development.

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5
Q

Loeys-Dietz

A

AD/75% de novo
SMAD3, TGFB

Overview: cardiac aneurysms, joint laxity, bifid uvula

Aneurysms/dissections
Pectus excavatum/carinatum, scoliosis, joint laxity,arachnodactyly/talipes, C-spine malformations
BIFID UVULA, wide spaced eyes, craniosynostosis
Skin: translucent/easy bruising

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6
Q

Homocysteinuria

A

AR- CBS mutation, intermediate in methionine → cysteine

Overview: joint contractures, inferior lens dislocation, low IQ, stroke risk

B6 responsive (mild/unresponsive)

Ectopia lentis (downward), tall stature/long limbs, pectus, scoliosis, CVA/VTE, dev delay/ID

Ix: elevated total homocys/met
Rx: B12/folate, met restricted diet

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7
Q

Marfans

A

AD, FBN1 gene, 25% denovo

Overview: joint laxity, superior lens dislocation, normal IQ

Ectopia lentis (sup) 50-80%
Aortic root dilatation/MVP/TVP
Skeletal overgrowth, arachnodactyly, joint laxity, scoliosis
High arched palate, retrognathia
N IQ

Score: Ghent criteria >7 to diagnose

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8
Q

Shprintzen-Goldberg syndrome

A

Craniosynostosis
Narrow head, hypertelorism, high arched palate, micrognathia, Marfanoid body habitus
Delayed development/ID
Poor tone, umbilical hernias

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9
Q

Types of genetic tests overview

A

Chromosomal testing
- Cytogenetics: karyotype
- Molecular cytogenetics: microarray, FISH, MLPA

Imprinting
- DNA methylation studies

Known mutations
- Single gene analysis
- SNP array
- MLPA

Unknown mutations
- NGS, WES, Sanger sequencing (slow)

Trinucleotide repeat analysis
- For TNA disorders i.e DMD, FXS
- Amplify DNA then Southern blot

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10
Q

When to use different genetic tests

A

Gene defects
- Microarray: duplications or deletions, unbalanced/microdeletions
- Karyotype: aneuploidies, sex chromosomes, translocations
- SNP array (single nucleotide polymorphisms): consanguinuity/wide genome screen
- FISH- microdeletions/duplications, need to have idea of gene that youre looking for
- MLPA- PCR amplification in area of interest- small deletions/duplications

Imprinting/TNA:
- Triplet repeat analysis: PCR then southern blot
- Methylation studies: UPD (if neg = imprinting)

Unknown
- NGS, WES

Other:
-Chromosomal breakage test: Fanconi, hereditary spherocytosis, AT

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11
Q

What do S,N,W Blots look for?

A

Blots (SNoW DRoP)
Southern = DNA
Northern = RNA
Western = Protein

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12
Q

Broad genetic screening tests- types of sequencing?

A

Sanger sequencing: screening for unknown mutation

Whole exome sequencing (WES)
- Exons (coding regions)
- Slower than targeted panels
- Can identify genes responsible for pathology

Next Gen Sequencing/whole genome
- All genes, translocations and non-coding DNA
- Cannot detect triplet repeats pr methylation defects

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13
Q

Types of cytogenetics, method and role?

A

Cytogenetics
Can identify: aneuploidies, large chromosomal imbalances, balanced/unbalanced translocations

(NOT- single gene, microdeletions, triplet repeat, imprinting)

Karyotype: directly analyses whole chromosomes
- Used for trisomies/monosomies- T21, Klinefelter/Turner

Molecular cytogenetics
Microarray
Can identify: gains/losses in genetic material
- CGH: compares DNA from 2 sources
- SNP: compares to control, can detect heterozygosity (more information)
uses: microdeletion/dup, single gene diagnoses

FISH
Can identify: presence/absence of DNA sequences on chromosomes, balanced rearrangements, localisation of DNA targets
i.e Trisomy, microdup/del- DiGeorge, Williams

MLPA
Can identify: duplication/deletions- amplifies DNA and seperates based on size

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14
Q

Klinefelters- 47XXY

A

Non-disjunction of X chromosome in meitotic division
1 in 800-1000 males
More common than turners

Breast tissue, wide hips, & euchanoid habitus- increased height/clinodactyly, reduced muscle bulk
Reduced libido/decreased fertility, testes smaller, may have hypogonadism
Language disabilities/ADHD, shy/depression
55% MVP

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15
Q

Ocular albinisim OA1

A

X-linked disorder
- Limited eye disease
- Poor vision/nystagmus
- Mums (carrier) may also have ocular albinism/mosaicism

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16
Q

Tietz syndrome

A

-MITF gene mutation (also seen in Waardenburg)
- Heterochromia/greying of hair
- Pale blue eyes/blonde hair
- Congenital deafness
- Hair colour may change

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17
Q

Waardenburg syndrome

A
  • Heterchromia, white forelock
  • SNHL with normal external eat
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18
Q

Jervell-Lange-Neilsen

A

Deafness/SNHL & long QT

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19
Q

Usher syndrome

A

SNHL & normal external ear
Retinitis pigmentosa

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20
Q

Pendred syndrome

A

SNHL, normal external ear
Hypothyroidism

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21
Q

Alport syndrome

A

COL2
Haematuria/nephritis
SNHL & normal external ear
Anterior chamber eye abnormalities

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22
Q

Chediak-Higashi Syndrome

A

Disorder of vascular trafficking (AR) Partial oculocutaneous albinism
Recurrent pyogenic infections
- Will develop HLH
Coagulopathy
Neurological abnormalities

Ix: giant cytoplasmic granules in leucocytes/platelets - pathognominic

Rx: HSCT- does not fix eye/skin/neuro abnormalities

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23
Q

Vici syndrome

A

-Congenital agenesis of the corpus callosum
- Bilateral cataracts
- Hypopigmentation of skin and hair
- Cardiomyopathy
- Immunodeficiency

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24
Q

Griscelli syndrome

A

Disorder of vascular trafficking (AR)
RAB27a gene

  • Sparse/hypopigmented hair
    Oculocutaneous albinism
  • Neutropenia
  • NO giant granules
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25
Hermansky-Pudlak syndrome
AR Oculocutaneous albinism Visual impairment Platelet dysfunction and prolonged bleeding Abnormal storage of a fatty-like substance (ceroid lipofuscin
26
Norrie Disease
X linked - Microcephaly - Bilateral retinal dysplasia - Neuropsychiatric symptoms.
27
Incontinentia Pigmenti
X-linked recessive (lethal in males, only females affected) - Skin lesions (hypopigmented initially) - Retinal dysplasia
28
Inheritance patterns - Autosomal dominant
Males and females Every affected person has at least one affected parents 3/4 children affected
29
Inheritance patterns - Autosomal recessive
Increased in consanguinity Males and females Parents not affected (carrier 1/4)- skips a generation
30
Inheritance patterns - X-linked dominant
Mum to all sons Males often die/females affected All daughters of affected male will receive gene
31
Inheritance patterns - X-linked recessive
Mum to all sons Females NOT affected All daughters of affected male will receive gene
32
Inheritance patterns - Translocation
Phenotypically normal carrier with increased risk of miscarriages or abnormal offspring (both males and females) Reciprocal: break into two parts and exchange Robertsonian: fusion of two short arms near centromere (45 not 46)
33
Inheritance patterns - Imprinting
Gene expression depends on which parent the chromosome came from - Maternal imprinting = maternal gene silenced (pat expressed) - Paternal imprinting = paternal gene silencing (mat expressed) Occurs during gametogenesis/embryonic development
34
Inheritance patterns - Triplet repeat
Disease becomes more severe as generations go on (greater expansions with each inheritance) - I.e Fragile X, Huntington, Myotonic dystrophy, spinocerebellar ataxia
35
Inheritance patterns - Mitochondrial
Mum affected, passes on to both sexes
36
Inheritance patterns - Mitochondrial
Mum affected, passes on to both sexes
37
Autosomal dominant with incomplete penetrance
Males and females Can skip a generation but sometimes transmitted
37
Meier-Gorlin syndrome
ORC1 gene: short stature, microcephally, micrognathia, under-developed or absent patella and small ears.
38
Pierre Robin sequence
- Micro/retrognathia, mandibular hypoplasia - Glossoptosis - Cleft palate WITHOUT cleft lip Rx: prone positioning, NGT feeds/NPA, surgical distraction if severe
39
Miller Syndrome
Malar hypoplasia, micrognathia, cleft lip and cleft palate and downward slanting eyes
39
Duane Syndrome
Sporadic, some AD Congenital strabismus L) > R) eye Type 1 = difficulty with abduction (one D in abduction) Type 2 = difficulty with adduction (two Ds in adduction) Type 3 = difficulty with both (3 Ds in abduction and adduction). 80% of cases are type 1 Associations: Klippel-Feil anomaly and hemifacial microsomia
40
Goldenhaar/Hemifacial microsomia
1 in 5,000 - Unilateral orbit, ear, facial muscle &mandible hypotrophy - Microtia/hearing loss - Epibulbar dermoids (eye)
41
Townes-Brocks
SALL1 gene TCOF1 gene - Dysplastic ears - Imperforate anus - Malformed thumbs
42
Treacher-Collins
TCOF1 gene - Midface hypoplasia - Cleft palette - Ear & eye abnormalities
43
Pendred syndrome
Iodine transport mediated by pendrin = giotre + SNHL - Usually no thyroid dysfunction, may have mild hypothyroidism
44
NF1
Autosomal dominant, 50% sporadic Chr 17 >6 cafe au lait >2 lisch nodules axillary freckling optic glioma >2 neurofibroma/1x plexiform neurofibroma Osseous lesions +ve FHX
45
NF2
Autosomal dominant, 50% sporadic Chr 22 Bilat acoustic neuroma Meningiomas Cataracts +ve FHX
46
Tuberous Sclerosis 1/2
Autosomal dominant, 75% sporadic >3 ash leaf spots >2 ungal fibromas >2 angiomyolipomas Shagreen patch Retinal harmatoma Cardiac rhabdomyoma Cortical dysplasia Subependymal nodules/astrocytoma Minor: Confetti skin lesions, dental pits, renal cysts, fibromas
47
Diagnosis?
Williams Autosomal dominant 7q11 del- ELN gene 'Elfin facies' with cocktail personality Hypercalcemia Supravalvular AORTIC/peripheral pulmonary stenosis (AS only if ELN point mutation) Developmental delay/ID
48
Diagnosis?
Alagille Autosomal dominant JAG1/NOTCH2 Short, triangular face Butterfly vertebrae Peripheral pulmonary stenosis Ix: PAUCITY OF BILE DUCTS on Bx, conjugated hyperbilirubinemia Prone to Moya Moya disease
49
Marfan's Autosomal dominant- FBN Ch15 Arm span >height, tall, joint hypermobility MVP/aortic aneurysms, ectopia lentis (upward), learning disability
50
Ehlers Danlos
Autosomal dominant COL5A Tall, joint hypermobility Easy bleeding, berry aneurysms, aortic root dilatation
51
Diagnosis?
Osteogenesis imperfecta Autosomal dominant COL 1A1/2 High ALP, hypercalciuria Short stature Blue sclera, opalescent teeth Hearing loss and poor vision Type 1- mild Type 2- lethal Type 3- progressive Type 4- moderate
52
Diagnosis?
Stickler Syndrome Autosomal dominant- COL2A1 Cleft palete, PRS (hypoplasia mandible, glossoptosis) MVP, joint hypermobility SNHL
53
Diagnosis?
Brachio-oto-renal syndrome Autosomal dominant- EYA1 Pre-auricular pits/tags, microtia SCM sinus/cyst Renal malformations
54
Diagnosis?
Diamond Blackfan Anaemia Autosomal dominant Triphalangeal thumb/absent thumb Cataracts Anaemia with low RCC, fatty BM - Cx: AML
55
Diagnosis?
Von Hippel Lindau Syndrome Autosomal dominant- VHL Chr3 Multiple renal, liver, endocrine tumors
56
Diagnosis?
Cornelia De Lange Syndrome Autosomal dominant- NIBPL, SMC1A, most sporadic Monobrow (synophyrys), hirstutism, short/upturned nose ASD/VSD ID
57
Diagnosis?
Waardenburg Syndrome Autosomal dominant Pale blue eyes, white forelock SNHL/vision loss
58
Diagnosis?
Costello Syndrome Autosomal dominant- RASMAPK/HRAS Big babies, loose skin on hands, deep palmar crease FTT Rhabdomyosarcoma/neuroblastoma
59
Diagnosis?
Noonan Syndrome AD- RASMAPK/ PTPN11/SOS1, sporadic Widely spaced nipples/sternal anomaly Pulmonary stenosis (supravalvular), ASD, HOCM Associated malignancies- JMML
60
Diagnosis?
Cardiofasciocutaneous syndrome Autosomal dominant- RASMAPK KRAS (similar to noonans) Sparse curly hair, ID/dev delay Seizures HOCM
61
Diagnosis?
Treacher-Collins Syndrome Autosomal dominant - Midface hypoplasia - Microtia/SNHL - Cleft
62
A1AT Deficiency
Autosomal dominant Defective A1AT builds up in lung - Neonatal jaundice, pale stools & hepatomegaly- cirrhosis/renal failure (first 1-2yrs) - Emphysema (panacinar/LL), chronic bronchiectasis- damage due to neutrophil elastase Heterozygote: PiMZ = 60% function Homozygote: PiZZ = 10-20% function- less likely to have liver disease Biopsy: PAS+ve/diastase resistant
63
Achondroplasia
Autosomal dominant FGFR3, most sporadic Inhibits chondrocyte development Rhizomelic dwarfism OSA/AA instability
64
Diagnosis?
Apert Autosomal dominant/sporadic Craniosynostosis, exopthalmos, cleft palette, syndactyly Mod ID
65
Diagnosis?
Crouzon Autosomal dominant Craniosynostosis, hydrocephalus, proptosis, strabismus Normal intelligence, normal hands & feet
66
Diagnosis?
ADPKD Autosomal dominant- Chr 4 Bilateral, large cystic kidneys Multiple cysts throughout abdomen Haematuria
67
Familial Adenomatous Polyposis
Autosomal dominant Multiple colonic polyps +ve FHx- suggest yearly scope from 10y
68
Li Fraumeni
Autosomal dominant Multiple malignancies - Sarcoma - Breast cancer - Adrenal Ca - Leukemia
69
MEN1, MEN 2A & B
Autosomal dominant
70
Charcot-Marie-Tooth
Autosomal dominant PMP2 (60%)- demyelinating, MFN2 (30%)- axonal Peripheral neuropathy, foot drop Motor > sensory Normal CK 'Onion bulb' appearence on nerve Bx
71
CHARGE
Autosomal dominant Coloboma Heart defects- tetralogy of Fallot Atresia Retardation (mental) Genital abnormalities
72
Diagnosis?
Hypomelanosis of Ito Autosomal dominant - Associated with seizures & developmental/cognitive delay
73
Diagnosis?
Osler-Weber-Rendu (HHT) Autosomal dominant Skin lesions- cherry angiomas GI bleeding/epistaxis/haematuria AVMs
74
Gilbert
Autosomal dominant - Glucoronyltransferase - Unconjugated hyperbilirubinemia - Intermittent jaundice
75
Diagnosis?
Peutz-Jeghers Autosomal dominant Risk of intestinal polyps & malignant transformation
76
Myotonic dystrophy
Autosomal dominant MD1 = DMPK - GTG triplet repeat - Anticipation- maternal Myotonia (unable to relax muscles after action) Muscle wasting Cataracts Cognitive delay
77
Huntingtons
Autosomal dominant - CAG triplet repeat - Anticipation-paternal Depression, choreiform movements/hemiballismus, caudate atrophy
78
Diagnosis? Types?
CF Autosomal recessive Type 1- no protein G,W,R Type 2- cant fold (delF508)- F,N,I most common, Rx Lumicaftor Type 3- cant transport G551D - G,S,V - Rx Ivacaftor Type 4- decreased function- R117H, asymptomatic
79
Dx?
Wilson disease Autosomal recessive - ATP7B <10y Liver/abdo Sx >10y Abnormal movements/psychiatric disease
80
Fanconi Anaemia
Autosomal recessive FANCA/B BM failure Abnormal thumbs/radial aplasia Short stature Cafe au lait macules/ash leaf spots CHD- PDA, ASD/VSD, situs inversus Ix: high HbH, AFP, pos chromosomal breakage study
81
Homocysteinuria
Autosomal recessive Like Marfans but Low IQ Downward ectopia lentis Coagulopathic
82
Dx?
ARPKD Autosomal recessive Bilateral smaller cysts in kidneys Potter's sequence= oligohydramnios - DDH/talipes - Pulmonary hypoplasia Flank mass, renal & liver dysfunction
83
Bartter/Gitelman
Autosomal recessive Bartter: N/K/Cl cotransporter DLH (frusemide) - Hypokalemic/chloremic acidosis - Stones - Low Na/K+/Cl - High urine Ca Gitelman: Na/K transport DCT (thiazide) - Low Mg2+, muscle cramps, polyuria - Low K+, acid, high glucose/uric acid - Low urine Ca
84
Glanzman Thrombasthenia
Autosomal recessive Normal platelet number Gp2b1a defective Unable to aggregate
85
Dx?
Smith-Lemli-Opitz Autosomal recessive - Cholesterol synthesis problem - Poor growth - Cleft palete - Cataracts - ID - Absent corpus callosum
86
Cartillage-Hair-Hypoplasia
Autosomal recessive - Dwarfism - Sparse hair - BM failure & increased risk of malignancy
87
Carpenter
Autosomal recessive - Craniosynostosis - Fusion of fingers - Situs inversus - SNHL
88
Ataxia-Telangectasia
Autosomal recessive - Ataxia/nystagmus - Telangectasia - Recurrent sinopulmonary infections Ix: high AFP, low IgA, lack of ATM protein on Western blot
89
Metachromatic Leukodystrophy
Autosomal recessive Hypotonia, distal weakness, absent reflexes
90
SMA
Autosomal recessive - Lack SMN1 protein - Anterior horn - LMN signs, areflexia, decreased tone, fasciculation Type 1 = most severe, never sit Type 2 = intermediate, never stand Type 3 = shoulder girdle Normal CK Bx: large gap atrophy
91
Tay-Sachs
Autosomal recessive Sphingolipid accumulation Cherry red spots in macula
92
TAR (thrombocytopenia absent radii)
Autosomal recessive
93
Freidrich's ataxia
Autosomal recessive - Ataxia, weakness- distal - Vision/speech/hearing changes - HOCM - high plantar arches
94
Crigler Najjar
Autosomal recessive Type 1 = severe lifelong jaundice rx transplant Type 2 = less severe
95
Kartageners/PKD
Autosomal recessive Bronchiectasis Infertility Situs inversus
96
Gluc-galactose malabsorption
Autosomal recessive - Severe osmotic diarrhoea, improves when milk stopped - Renal calculi Ix: hydrogen breath test Rx: fructose only formula/sugar
97
Congenital chloride diarrhoea
Autosomal recessive Dehydration Low Cl/stool Cl high ++
98
PKU
Autosomal recessive Pale hair, blue eyes, eczema, pale skin ID, seizures Musty odour to urine Rx: Low Phe diet
99
Types of ciliopathies & features.
Joubert's ( JBTS ) - AR - Retinitis piigmentosa, ataxia, sleep apnoea/hyperpnea, polydactyly - Absent corpus callosum Dent's- CLCN5 (1), ORCL1 (2) - X-linked, - Proximal RTA & stones - Hypophosphatemic ricketts Bardet-Biedl (BBS) - Pleotropic - Rod-cone blindness, polydactyly, obesity,LD Meckel Gruber (MKS1/2) - Encephalocoele, dysplastic kidneys, polydactyly Senior Loken (NPHP)/Nephronopthisis - SL: Juvelile NP/ progressive eye disease - NP: polyuria/polydipsia, ESRF, CM cysts McKusick Kaufman (MKS1) - AD - Hydrometrocolpos, hypospadias, ureteric atresia Ellis-Van Creveld (EVC) - Polydactyly, dwarfism, CHD/ASD, natal teeth, cleft Leber congenital amaurosis - Vision loss PCD/Kartageners PCKD
100
Usher syndrome=
hearing loss, ataxia and retinitis pigmentosa
101
Lowe Syndrome- Sx/gene
Oculocerebrorenal syndrome OCRL1 gene- X linked Bilateral cataracts from birth Proteinuria/stones Behavioral change/hypotonia
102
Kearns Sayre Syndrome (what syndrome can precede?)
Mitochondrial myopathy with proximal weakness Retinal degeneration Conduction block Ataxia Ragged red fibres on Bx Preceded by Pearson's Syndrome: sideroblastic anaemia, pancreatic insufficiency & LBW
103
Sx Lambert Eaton Syndrome
104
Genetic conditions associated with coloboma?
*Aicardi syndrome *Basal cell nevus (carcinoma) syndrome *Cat-eye syndrome *CHARGE *Kabuki syndrome *Linear sebaceous nevus syndrome *Meckel-Gruber syndrome *Rubinstein Taybi syndrome *Trisomy13,18 *WalkerWarburg syndrome
105
Examples of conditions due to haploinsufficiency?
Haploinsufficiency: reduction of 50% of gene function results in an abnormal phenotype Williams syndrome CHARGE syndrome Cleidocranial dysostosis EDS Marfan syndrome Holt-Oram
106
Which conditions display the dominant-negative effect?
Definition = altered gene product that acts antagonistically to the wild type Cancer – p53, ATM Marfan syndrome
107
Russel Silver, BWS, Prader Wili & Angelman genetics
Chromasome 7/11p Russel-Silver syndrome - Maternal UDP 7 (7%) - Imprinting defects on 11p (30%) - Structural chromosomal aberrations (1%) Beckwith WiedeMANN - Imprinting defects on 11p (60%) - Paternal UDP 11p (20%) - Gene mutation (CDKN1C) (10%) - Paternal duplication, inversion, translocation (1-2%) Chromosome 15 AngelMAN - Microdeletion (70%) - Paternal UDP 15 (1-3%) - UBE3A mutation (5-10%) - Imprinting defect (3-5%) Prada-Willi syndrome - Microdeletion (70%) - Maternal UDP 15 (25%) - Imprinting defect (3%)
108
Russel Silver, BWS, Prader Wili & Angelman symptoms
Russel Silver - Hemihypertrophy (small) - Triangular face - Decreased bone age BWS - Overgrowth - Macroglossia - Ear pits/tags - Abdominal wall defects, risk embryonal tumors - Hypoglycemia, obesity Prader Wili - Hypotonia/hyperglycemia - Feeding difficulties - ID - Hypogonadism Angelman - Severe ID - Inappropriate laughter - Ataxia/seizures
109
MRI findings in Jouberts (cerebello-oculo-renal syndrome)?
Molar tooth sign (cerebellar vermis hypoplasia) - 25% will have nephronophthisis or renal dysplasia
110
Define cascade testing in genetics?
* Cascade testing involves determining whether or not it is present in other family members beyond the parents.
111
Define segregation in genetics?
* Segregation is the process of determining whether a variant of interest found in a patient is present in parents.

FRACP 2023 Cram Homicrons Edition (29 decks)

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