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FMS > FMS Week 3 > Flashcards

FMS Week 3 Flashcards

1
Q

congenital cytomegalovirus infection

A

SNHL, chorioretinitis, microcephaly, ID

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2
Q

inheritance characteristics of Fragile-X

A

most penetrant in males (only one X), female heterozygotes may have ovarian failure and ataxia, typically X-dominant

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3
Q

general mechanism of FMR1 silencing

A

mutation leads to hypermethylation, silencing by HDACS, condensation of promoter

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4
Q

situs ambiguous

A

mixed laterality or body patterning

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5
Q

signs/symptoms of Angelman syndrome

A

ID/limited speech, ataxic gait, spontaneously happy affect, seizures

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6
Q

thalidomide

A

sleep and anti-nausea med used during pregnancy

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7
Q

phenotypic heterogeniety

A

multiple distinct phenotypes arising from different mutations in the same gene

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8
Q

general indications for ACE inhibitors

A

hypertension

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9
Q

what is the greatest cause of genetic disease?

A

multifactorial disorders

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10
Q

inheritance of myotonic dystrophy

A

autosomal dominant

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11
Q

teratogenic effects of anticonvulsants

A

nail hypoplasia (phenytoin), neural tube defects (valproic acid and carbamazepine)

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12
Q

pathogenesis of type one DM

A

autoimmune destruction of the beta cells of the pancreas

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13
Q

HOX genes

A

regional selection of patterning of body from hindbrain to tail

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14
Q

heterotopias

A

apparently normal neurons in abnormal locations

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15
Q

what type of condition is associated with LIS1?

A

neuronal migration: periventricular nodular heterotopia

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16
Q

cause of Fragile X syndrome

A

CCG triplet expansion in FMR1 region of X-chromosome

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17
Q

general anomalies associated with 2nd and 3rd trimester?

A

IQ, developmental problems

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18
Q

best potential vector for SCIDs?

A

lentiviral

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19
Q

teratogenic effects of tobacco

A

poor fetal growth, behavioral teratogenicity, IQ?

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20
Q

what type of condition is associated with FLNA?

A

neuronal migration: periventricular nodular heterotopia

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21
Q

teratogenic effects of Isotretinoin

A

CNS, cardiac, ear, thymic, branchial arch anomalies

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22
Q

MELAS

A

mitochondrial disease: mitochondrial encephalopathy lactic acidosis and stroke-like episodes

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23
Q

cause of Angelman Syndrome

A

“silencing” of maternal genes at 15q

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24
Q

signs/symptoms of Fragile-X

A

15-20% have developmental delay, characteristic facial features (large forhead, long face, prominent chin/ears), joint laxity, enlarged testes in adults, associated with autism

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25
Q

general anomalies associated with 1st trimester?

A

congenital malformations

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26
Q

general indications for methotrexate/misoprostol

A

cancers, dermatomyositis

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27
Q

teratogenic effects of maternal PKU

A

microcephaly, ID, cardiac defects, pregnancy loss

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28
Q

Syndrome vs Sequence vs Anomaly

A

Syndrome: a pattern of anomalies known or thought to be related to a gene or teratogen

Sequence: one or more secondary morphologic anomalies cascading from a single malformation, disruption, or deformation

Anomaly: an anatomic phenotype substantially departing from reference population

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29
Q

what is the surmised mechanism of uniparental disomy?

A

trisomy rescue (trisomy with loss of second parent’s chromosome around fertilization)

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30
Q

temporal colinearity

A

3’ HOX genes expressed earliest

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31
Q

Waardenburg Type 1

A

mutation in PAX3, results in hypertelorism, white furlock, deafness

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32
Q

treatments for mitochondrial disorders

A

No effective treatment; cofactors like coQ10, thiamine, vitamin E, and carnitine

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33
Q

cause of Prader-Willi syndrome

A

results from “silencing” of paternal genes at 15q

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34
Q

number of CAG repeats associated with inormal patient (nonHD)

A

<26

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35
Q

what is organogenesis?

A

2-9 weeks post conception; approximately the first trimester

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36
Q

cause of Friedreich Ataxia

A

nucleotide expansion mutation in FXN gene on chromosome 9, codes for Fraxatin which removes iron in the cytoplasm around mitochondria, leads to free radical damage to mitochondrial membrane

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37
Q

what are the disadvantages of Lentiviral vectors?

A

potential for activating oncogenesis, potential for insertional mutagenesis (non selective and contains its own promoter)

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38
Q

spina bifida

A

neural tube defect, failure of fusion of vertebral arch, typically in lumbar region, varying degrees of severity

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39
Q

Describe Sonic hedgehog syndrome

A

Mutation in SHH gene, Holoprosencephaly, clefting, malformed midline structures, (cyclopia, central incisor, absent frenulum etc)

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40
Q

what type of slippage would lead to trinucleotide expansion?

A

backward slippage

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41
Q

Waardenburg Type IV

A

Hirschsprung disease (aganglionic megacolon)

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42
Q

Describe Tuberous sclerosis

A

Disease associated with TSC1, TSC2 genes. Hamartomas, cardiac thabdomyomas, ungual fibromas, facial angiofibromas, ashleaf spots, and seizures.

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43
Q

teratogenic effects of gestational diabetes

A

(“abundant fuel”) macrosomia, high insulin levels, hypoglycemia, polycythemia, hypertrophic cardiomyopathy, microcolon

44
Q

CFTR gene

A

associated with CF, membrane bound protein associated with Cl- channels

45
Q

teratogenic effects of ACE inhibitors

A

renal failure, skull defects

46
Q

what are the 2 most common congenital anomalies?

A

undescended testes and heart defects

47
Q

CRISPR-Cas9 gene editing involves what repair mechanism?

A

homologous recombination

48
Q

what is the role of PAX genes?

A

transcription regulators, initiate and orchestrate eye development

49
Q

signs/symptoms of Prader-Willi syndrome

A

neonatal hypotonia & cryptorchidism, hypothalamic dysfunction: lack of satiety & obesity, hypogonadotropic hypogonadism, growth hormone deficiency: short stature & hypotonia, congnitive/behavioral impairment

50
Q

teratogenic effects of thalidomide

A

stunted growth, phocomelia (“seal limbs”)

51
Q

what is “Anticipation”?

A

worsening of triplet repeats in subsequent generations

52
Q

teratogenic effects of lithium

A

ebstein’s anomaly of tricuspid valve

53
Q

teratogenic effects of lead

A

impaired CNS function

54
Q

antisense RNA therapy

A

oligoribonucleotides that pair to mRNA, can block translation/splicing

55
Q

what tissues are most affected by mitochondrial diseases?

A

neuro, muscular, and cardiac

56
Q

teratogenic effects of 1st trimester diabetes

A

(insulin dependent), cardiac/sacral defects, neural tube defects, pregnancy loss

57
Q

number of CAG repeats associated with juvenile HD

A

60+

58
Q

situs inversus

A

mirrored laterality or body patterning

59
Q

general teratogenic effects of TORCH infections

A

IUGR, prematurity, hypo/hypertonia, seizures, microcephaly, hydrocephalus, chorioretinitis, cataracts, glaucoma, hearing loss, pneumonia, strucural cardio defects, hepatosplenomegaly, petechiae/purpura, rash, jaundice

60
Q

teratogenic effects associated with methotrexate/misoprostol

A

multiple organ systems/structures, most within the 1st trimester

61
Q

uniparental disomy

A

both members of a chromosome pair are inherited from one parent

62
Q

MERRF

A

mitochondrial disease: myclonic epilepsy and ragged red fibers

63
Q

teratogenic effects of cocaine

A

pregnancy loss, placental abruption, intrauterine growth retardation (IUGR), microcephaly

64
Q

what are the disadvantages of Adenovirus vectors?

A

high immune response (because they are so infectious) and not stably integrated

65
Q

gene associated with CF

A

CFTR, large gene, associated with thousands of mutations

66
Q

heteroplasmy

A

When a cell contains multiple mitochondrial lines (mitochondrial “mosaicism”)

67
Q

teratogenic effects of methylmercury

A

microcephaly, ID, cerebral palsy, minamata disease

68
Q

what is a gene vector?

A

an engineered piece of DNA derived from a naturally occurring human virus

69
Q

teratogenic effects of ACE inhibitors

A

decreased renal blood flow, renal failure, hypotension, anuria, skull hypoplasia, morbidity

70
Q

Causes of nucleotide repeat expansions

A

hypermethylated regions/stable hairpins, mistakes during replication/repair, unequal crossing over during meiosis (gene conversion)

71
Q

qualitative traits vs quantitative traits

A

qualititative: traits either present or not

quantitative traits: measurable physiological/biochemical quantities

72
Q

signs/symptoms of Friedreich Ataxia

A

muscle weakness in arms/legs, loss of coordination, vision/hearing/speech impairment, scoliosis, high plantar arches, diabetes, heart disorders

73
Q

describe SCIDs

A

severe combined immunodeficiency; due to adenosine deaminase deficiency, leads to build up of doxyadenosine and S-adenosylhomocysteine which are toxic to immune cells

74
Q

periventricular nodular heterotopia

A

involves clusters of neurons that never begin migration, involved in 15+ syndromes

75
Q

what are the disadvantages of Adenovirus-associated vectors?

A

small payload, infected cells are recognized by immune system and compromised

76
Q

signs/symptoms of Myotonic Dystrophy

A

myotonia and wasting of smooth/skeletal/cardiac muscles, cardiac conduction defects, hypersomnia, cognitive changes, dementia

77
Q

teratogenic effects of Zika virus

A

severe microcephaly, neurological complications, eyes and ears

78
Q

mechanism of defect in myotonic distrophy

A

regions are “decoys” for CUG RNA binding proteins for mRNA metabolism, build up of non-degraded DMPK transcripts

79
Q

what tissues are most affected by HD?

A

brain and testes

80
Q

small interference RNA

A

siRNA, essentially artificial microRNAs that can target mRNAs using the RISC pathway, can be sent into the cell in engineered liposomes

81
Q

cause of Noonan syndrome

A

a syndrome that arises from mutations in various proteins/enzymes related to the RAS-MAPK pathway

82
Q

types of “silencing” in Prader-Willi/Angelman syndromes

A

At 15q: deletion, UPD, repression from imprinting defect, UBE3 mutation in Angelman

83
Q

CPEO

A

mitochondrial disease: chronic progressive external opthalmoplegia

84
Q

signs of fetal alcohol symptom

A

growth deficiency, microcephaly, learning disability, mild/moderate ID, behavioral (ADHD, impulsiveness, poor memory, conduct disorder), characteristic facial features

85
Q

most common mutation class in cystic fibrosis

A

F508del (phenylalanine deletion)

86
Q

situs solitus

A

normal laterality or body patterning

87
Q

what are the 2 types of RNA-based therapies?

A

antisense RNAs and RNA interference

88
Q

factors affecting teratogenicity?

A

timing, dose, predisposition (metabolism, genetics, physiology)

89
Q

congenital rubella syndrome

A

IUGR, microcephaly, cataracts, hearing loss, chorioretinitis, meningoencephalitis, ID

90
Q

NARP

A

mitochondrial disease: neurogenic ataxia and retinitis pigmentosa

91
Q

when is a fetus/embryo most sensitive to teratogens?

A

organogenesis

92
Q

what is the difference between malformation, deformation, and disruption?

A

malformations are intrinsic abnormalities in programs driving development.

deformations are from extrinsic forces on otherwise normally developing tissues

disruptions are when normal tissues are subjected to a destructive problem causing breakdown or loss (vascular, infection, etc.)

93
Q

describe WAGR

A

Aniridia-wilms tumor association

PAX-6 deletion leads to aniridia, WT1 gene leads to Wilms tumor

94
Q

inheritance of Friedreich Ataxia

A

autosomal recessive (25% recurrence)

95
Q

anencephaly

A

anterior neural tube defect, 2/3 are female, typically stillborn or death shortly after birth

96
Q

Type 1 vs Type 2 myotonic dystrophy

A

type 1: expansion in 3’ UTR of DMPK gene on chromosome 19q

type 2: expansion in zinc finger 9 (ZNF9) gene on chromosome 3

97
Q

cause of Huntington Disease

A

CAG repeat expansion at HTT of 4p

98
Q

what type of condition is associated with DCX?

A

neuronal migration: periventricular nodular heterotopia

99
Q

spatial colinearity

A

3’ HOX genes expressed more anteriorly

100
Q

number of CAG repeats associated with adult onset HD

A

40-60

101
Q

TORCH

A 
Toxoplasmosis
Other (Varicella, syphilis, Zika)
Rubella
Cytomegalovirus
Herpes
102
Q

FMRP

A

protein associated with FMR1 gene (fragile-X); participates in RNA transport/function in neural cells

103
Q

origination of cleft lip/palate

A

failure of fusion of frontal process with maxillary process early on (35th day of gestation), most common in males

104
Q

MHC locus

A

major genetic factor in type 1 diabetes

105
Q

what are the potential issues with CRISPR-cas9 systems?

A

unintentional editing, unpredictable effects on progeny, designer medicine

106
Q

most common anomaly of folic acid deficiency during pregnancy

A

NTD (reduced blood folate and elevated homocysteine)

107
Q

characteristic trait of Van der Woude syndrome (VWS)

A

bilateral lower lip pits

FMS (10 decks)

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