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FOP/TAS > Genetics > Flashcards

Genetics Flashcards

1
Q

Frame-shift mutation

A

Type of insertion mutation
1 or more bases inserted, changing the way the DNA is read

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2
Q

Deletion mutation

A

deletion of a nucleotide, can lead to a non-functional protein

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3
Q

Missense mutation

A

alteration of a nucloetide sequence that converts one codon for an aminoa cid into a codon for a second amino acid

can lead to pathogenic variant or unknown significance

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4
Q

Nonsense mutation

A

changes a triplet coding for an amino acid into a termination codon, leading to a non-functional protein

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5
Q

Point mutation

A

Single nucleotide change ina DNA molecule

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6
Q

What can array CGH not detect

A

balanced chromosomal rearrangements

cant distinguish between unbalanced chromosomal rearrangements caused by different mechanisms

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7
Q

CHD associated with turner’s syndrome

A

CoA and VSD

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8
Q

Trisomy 13 features

A

patau syndrome

midline defects
- cleft palate
- ASD or VSD
- fused kidneys
- holoprosencephaly
- microphthalmia

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9
Q

Trisomy 18 features

A

edwards syndrome

  • SGA
  • VSD +/- valve dysplasia
  • short sternum
  • overriding fingers
  • ‘rocker bottom feet’
  • multiple choroid plexus cysts on CrUSS
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10
Q

Physiology of how DiGeorge syndrome affects embryology

A

the deletion causes a reduction in T-box transcription factor 1 (TBX1) which disrupts the development of the 3rd and 4th pharyngeal arches

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11
Q

williams syndrome genetic defect

A

microdeletion on chromosome 7q11 - encompasses the elastin gene

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12
Q

presentation williams syndrome

A

cardiac - SUPRAvalvular aortic stenosis often with peripheral pulmonary branch stenosis

periorbital fullness
wide mouth & full lips
flat nasal bridge
mental retardation
hypercalcaemia
overfriendliness/short attention span/anxiety

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13
Q

what is an imprinting disorder

A

inherited genes are expressed only from a copy inherited by one parent

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14
Q

causes of imprinting disorder

A

methylation defect
- switches off genes that are normally active or switching on genes that are normally silenced

uniparental disomy
- inheritance of borth copies of a chromosome from only 1 parent

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15
Q

examples of imprinting disorders

A

prader willi

angelman

beckwith-widemann syndrome

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16
Q

imprinting defects causing prader-willi syndrome

A

Essentially expression of only maternal copy

  • MATERNAL uniparental disomy at chromosome 15q11 (SNRPN Gene mutation)
  • Large deletions of the PATERNAL copy of 15q11
  • Methylation defects
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17
Q

Presentation of prader-willi syndrome

A

Hypotonia
Poor feeding
Overeating&raquo_space; obesity
Hypogonadotrophic hypogonadism
Small hands and feet
Temper tantrums
High pain tolerance
Almond shaped eyes
Thin upper lip

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18
Q

Imprinting defects causing angelman syndrome

A

Essentially expression of only paternal copy

  • PATERNAL uniparental disomy at chromosome 15q11
  • Large deletions of the MATERNAL copy of 15q11
  • Loss of function mutations on the maternal allele of UBE3A
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19
Q

Presentation of angelman syndrome

A

developmental delay
ataxia
happy disposition phenotype
wide mouth
seizures

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20
Q

cause of BWS

A

disruption of the imprinted region on chromosome 11p15

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21
Q

tumour that BWS patients at higher risk of and what monitoring is done

A

wilms tumour

abdo US every 3m until age 7

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22
Q

marfans genetic defect

A

missense mutation in the FBN1 gene on chromosome 15q - encodes for fibrillin

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23
Q

neurofibromatosis type 1 genetic defect

A

mutation in NF1 gene on 17q11.2

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24
Q

pathophysiology of neurofibromatosis

A

NF1 gene encodes for neurofibromin - a tumour suppressor protein (RAS-GAP)

Neurofibromin most common in neurons, glial cells and schwann cells

NF1 gene defect leads to RAS hyperactivation&raquo_space; activation of pro malignancy pathways

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25
Q

Criteria for NF1 diagnosis

A

2 or more of …

  • 6x cafe au lait macules
  • 2x or more neurofibromas or 1x plexiform neurofibroma
  • axillary or inguinal freckling
  • 2 or more lisch nodules
  • distinctive bony lesion
  • 1st degree relative with NF1
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26
Q

what are lisch nodules

A

raised tan coloured haematomas in the iris

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27
Q

diagnostic criteria for NF2

A

1x major or 2x minor

Major
- unilateral vestibular schwannnoma % 1st deg relative with NF1
- bilateral vestibular schwannomas

Minor
- meningioma
- schwannoma
- ependyoma
- glioma
- cataract

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28
Q

mutations for tuberose sclerosis

A

point mutations on

TSC1 - chromosome 9 - encodes for hamatin

TSC2 - chromosome 16 - encodes for tuberin

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29
Q

pathological consequence of TSC1 or 2 mutations

A

dysregulation of mTOR (mamamalian target of rapamycin)

30
Q

achondroplasia mutation

A

AD mutation in the fibrobast growth factor receptor 3 (FGFR3) on chromosome 4

31
Q

diagnostic achondroplasia features at birth

A

short metacarpals and phalanges
short ribs with cupped anterior end
large skull with narrow foramen magnum

32
Q

cause of myotonic dystrophy

A

monoalleic triplet repeat expansion in DMPK gene (type 1) or CNBP gene (type 2)

33
Q

associated features of myotonic dystrophy (apart from muscle weakness)

A

cataracts & diabetes

34
Q

cause of fragile x

A

full expansion repeats in the CGG triplet repeat in the FMR1 gene on Chromosome Xq27.3

35
Q

Inheritance of alagille syndrome

A

AD

36
Q

genetic defect in alagille syndrome

A

defect in the JAG1 gene on chromosome 20

37
Q

presentation of alagille syndrome

A

butterfly vertebrae

cholestasis

facial - broad forehead, hypertelorism, small pointed chin

anterior segment abnormalities - posterior embryotoxin

38
Q

mutation in CF

A

CFTR gene on chromosome 7

39
Q

inheritance of DMD

A

x linked recessive

40
Q

inheritance of Rett syndrome

A

x linked dominant

41
Q

genetic defect of rett syndrome

A

loss of function mutation in MECP2 gene on X chromosome

42
Q

presentation of rett syndrome

A

exclusively females
apparently normal development then regression of skills and deceleration of head growth 6-18m
midline hand movements - shaking, inability to hold things

43
Q

genetic defect in incontentia pigmenti

A

mutation in the NEMO gene on Xq28

44
Q

inheritance of incontentia pigmenti

A

x linked dominant

45
Q

presentation of incontentia pigmenti

A

affected male pregnancies most liley will miscarry

cropped circumferential blisterning lesions on the trunk with linear distribution on the limbs

lesions regress by late childhood and leave atrophic streaky areas of pigmentation

46
Q

inheritance of holt-oram syndrome

A

AD

47
Q

genetic defect in holt oram syndrome

A

TBX5 gene mutation on chromosome 12

48
Q

presentation holt-oram syndrome

A

hypoplastic thumbs
ASD
absent radii

49
Q

CHARGE syndrome

A

coloboma
heart disease
atresia (choanal)
retardation of growth
genitourinary abnormalities
ear anomalies

50
Q

presentation of pierre robin

A

3 classic features

  • cleft palate
  • glossoptosis
  • micrognathia
51
Q

inheritance of treacher collins

A

AD

52
Q

genetic defect in treacher collins

A

TCOF1 gene mutation on chromosome 5q32

53
Q

pathophysiology of treacher collins

A

failure of neural crest cells to develop into the first pharyngeal arch in 4th week of pregnancy

54
Q

presentation of treacher collins

A

micrognathia
malar hypoplasia
ear malformations
down slanting eyes
conductive deafness
lower eyelid coloboma

55
Q

associated ocular manifestion of familial adenomatous polpyosis

A

congenital hypertrophy of the retinal pigment epithelium

56
Q

genetic defect in hereditary spherocytosis

A

ANK1 gene mutation

57
Q

genetic defect in cri du chat

A

deletion of the ‘p’ arm

58
Q

inheritance of tay sachs

A

AR

59
Q

cause of tay sach’s disease

A

mutation in the hexosamindase subunit alpha (HEXA) gene on chromosomal 15

60
Q

pathophysiology of tay sachs

A

mutation > diminished levels of hexasamindase A enzyme > failure ot breakdown GM2-ganglioside > accumulation within neurones of the brain and spinal cord

61
Q

inheritance of pendred syndrome

A

AR

62
Q

presentation of prendred syndrome

A

bilateral sensorineural deafness
vestibular dysfunction (bilateral dilatation of the vestibular aqeducts)
goitre

63
Q

Ix for pendred syndrome

A

MRI middle ear

64
Q

inheritance of laurence-moon-biedl syndrome

A

AR

65
Q

presentation of laurence-moon-biedl syndrome

A

obesity
cranial DI
hypogonadism
night blindness
retinitis pigmentosa
polydactlty
tinnitus

66
Q

inheritance of cockayne syndrome

A

AR

67
Q

presentation russell-silver syndrome

A

prenatal growth restriction
triangular face
5th finger clinodactlyly
cafe au lait spots
sweatiness

68
Q

inheritance of noonans syndrome

A

AD

69
Q

genetic defect in noonans syndrome

A

PTPN11 gene mutation on chromosome 12q

70
Q

presentation noonans syndrome

A

short stature
hypertelorism
pulmonary stenossis
hypertrophic cardiomyopathy
pectus carinatum / pectus excavatum
mild DD
undescended testes

FOP/TAS (25 decks)

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