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FMS > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

The circular mitochondrial Genome contains 13 genes that code for what biochemical process?

A

Electron Transport Chain- Making ATP

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2
Q

What tool detects alteration in number of chromosomes, large duplications/deletions and translocations

A

Karyotype

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3
Q

Comparative genomic hybridization tests for?

A

deletions/duplications

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4
Q

Phenylketonuria(PKU)/symptoms

A

Autosomal recessive Loss of phenylalanine hydroxylase activity with accumulation of phenylalanine on organic acid quantitation. Phenylalanine is neurotoxic. Unable to convert Phenylalanine to Tyrosine so tyrosine becomes essential. Intellectual disability, growth retrdation, seizures, fair complexion musty body odor.

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5
Q

Phenylketonuria treatment

A

Treat with low protein diet and tetrahydrobiopterin (BH4) cofactor. Avoid artificial sweetener aspartame (contains phenylalanine)

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6
Q

More than one genotype in a person

A

Mosiacism

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7
Q

Methylmalonic Aciduria- diagnosis

A

Lack of methylmalonyl-CoA mutase enzyme which converts methylmalonyl-CoA into succinyl-CoA(Krebs cycle)
elevated methylmalonic acid level on urine organic acid quantitation

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8
Q

Urea Cycle defects

A

Defect in the pathway converting toxic ammonia to non-toxic urea causing severe, hyperammonemia in the neonate

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9
Q

urea cycle defect symptoms/ treatment

A

neurologic damage if not treated rapidly. plasma amino acid quantitation will have elevations of a diagnostic amino acid except for OTC deficiency which will have low citrulline
Treat with low protein diet and ammonia scavenger medications

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10
Q

Hereditary fructose intolerance

A

deficiency in enzyme aldolase B which metabolizes fructose to glucose(gluconeogenesis). molecular analysis of aldolase b

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11
Q

Hereditary fructose intolerance symptoms/treatment

A

ingestion of fructose leads to vomiting and hypoglycemia acutely, chronic ingestion causes hepatomegaly and renal dysfunction. Treat by restricting fruit, vegetables, corn syrup and table sugar

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12
Q

Lesch-Nyhan Disease-

x-linked recessive

A

Disorder of purine reclamation. defect in HGPRT. H-hyperuricemia, G-gout, P-pissed off(agression, self mutilation), R-retardation, dysTonia. elevated uric acid and molecular analysis of HBPRT

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13
Q

Lesch-Nyhan treatment***

A

allopurinol or 2nd line febuxostat

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14
Q

Fatty Acid Oxidation Disorders

A

many of disorders due to inability of body to produce/utilize enzymes to produce energy within the liver and muscles from fats. Presents as child with lethargy and vomiting following fasting, kypoketotic hypoglycemia. Possibly asymptomatic or cardiac/hepatic involvement

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15
Q

Fatty Acid Oxidation Disorders- diagnosis/treatment

A

elevations of fatty acid oxidation intermediates. Treat by avoidance of fasting and rapid treatment of hypoglycemia

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16
Q

Raw eggs contain aviden. Chronic use leads to deficiency of?

A

Biotin

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17
Q

Biotidinase Deficiency autosomal recessive

A

metabolic disorder in reclamation or recycling of vitamin biotin. Alopecia, dermatitis, deafness, seizures, neurologic deterioration starting 4-6 months of age.

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18
Q

Biotinidase diagnosis and treatment`

A

Diagnose with enzyme assay of biotinidase. Treat with biotin supplementation

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19
Q

Hunter Syndrome X-linked recessive/Treatment

A

Iduronidase-2-sulfatase defect. Patients accumulate mucopolysaccharides such as dermatan and heparin sulfate. Treat with eynzyme replacement therapy (ERT) Elaprase

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20
Q

type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells.

A

germline mosiacism

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21
Q

Percentage of people who carry the pathogenic variant who express the trait

A

Penetrance- Reduced penetrance in Retinoblastoma. Marfan Syndrome highly penetrant

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22
Q

Traits expressed vary between individuals who carry the gene, along a contiuum

A

Variable expressivity

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23
Q

Neurofibribromatosis Type 1-

A

mutations in NF1 gene 100% penetrant but variably expressed. Autosomal Dominant

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24
Q

Neurofibribromatosis Type 1-

A

Autosomal dominant mutation in NF1 gene 100% penetrant but variably expressed. Cafe-au-lait macules, axillary/inguinal freckling, neurofibromas, lisch nodules(iris hamartomas), bony lesions: tibial bowing

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25
Q

Achondroplasia

A

Autosomal dominant pathogenic varient in FGFR3. rhizomelic shortening of arms and legs, short stature, macrocephaly, frontal bossing, depressed nasal bridge. CNS complications can cause death in infants from upper airway obstruction 98% mutations are in G1138A. 80% de novo, 100% in father’s germline. homozygosity is lethal

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26
Q

Marfan Syndrome

A

Autosomal dominant mutation in FBN1 gene- fibrillin protein. Dilated aortic root, ectopia lentis, skeletal changes. 25% de novo

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27
Q

FGFR3 gene function

A

negative regulator of bone growth. mutation causes activation of gene “gain of function mutation”

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28
Q

Consanguinity

A

marriage within families more common in rare recessive diseases

29
Q

Sickle cell disease

A

Autosomal recessive point mutation producing HbS. cells sickle under low pH and deoxygenation.

30
Q

Cystic Fibrosis/test

A

Autosomal recessive Mutations in CFTR-a chloride channel results in thick mucus. Caucasians. Sweat chloride test

31
Q

Maternal PKU

A

PHE crosses placenta readily- control diet

32
Q

Any chromosome number that is not an exact multiple of the haploid number

A

Aneuploidy(trisomy, monosomy)

leading genetic cause of intellectual disability

33
Q

upslanting palpebral fissures, overfolded helices, single palmer transverse creeases, short bent 5th finger, moderate intellectual disabilty

A

Trisomy 21 Down syndrome

34
Q

Chromosome abnormalities in Trisomy 21

A

95% nondisjunction

4% Robertsonian translocation between 21 and another acrocentric chromosome (14,22)

35
Q

Karyotype 46,XY,t(14;21)

A

Down syndrome due to a Robertsonian translocation (long arms fuse)

36
Q

45, XY, t(14;21)

A

Normal Father with robertsonian translocation

37
Q

Short sternum, overlaping figners with clenched fists, genital anomaly, left foot missing digits. Cardiac defect and renal anomaly. Severe ID

A

Trisomy 18 (Edward’s Syndrome)

38
Q

low frontal hairline, short papebral fissures, blunt nasal tip with small nostrils, small chin, “fawn-like” ears, high nasal bridge

A

Trisomy 18(Edward’s Syndrome)

39
Q

Holoproncephaly with premaxillary agenesis(atypical median cleft lip/palate); microphthalmia, flexed fingers, polydactyly, cryptorchidism, abnormal scrotum, cardiac defect & cystic kidneys

A

Trisomy 13 (Patau syndrome)

40
Q

mirocephaly, holoproncephaly, closed hand, short prominent sternum, “rocker-bottom” feet with prominent calcanei, vsd

A

Trisomy 13 (Patau syndrome)

41
Q

Recurrent Risk of Trisomies

A

1% until over 40 years

Karyotype parents if there is a structually abnormal chromosome, e.g. Robertsonian translocation

42
Q

Recurrence risk for carrier t(21;21)

A

100%

43
Q

Cri du chat syndrome, hypotonia and laryngeal abnormality, growth restriction, microcephaly, round face with widely space eyes, single palmer creases, moderate to severe intellectual disability

A

5p- Syndrome

44
Q

Mild facial dysmorphology, slow growth, cleft palate, cardiac defects(VSD, tetrology of Fallot) , broad face nimor ear anomalies

A

22q11 deletions (DiGeorge syndrome and Velocardiofacial syndrome

45
Q

Mechanism of 22q11.2 deletion

A

non-allelic homologous recombination (NAHR)

46
Q

Test for 22q11.2

A

FISH if you highly suspect, chromosomal microarray if you are thinking other diseases as well

47
Q

Multiple malformation syndrome with wilms tumor of the kidney, aniridia, retardation of growth and development

A

WAGR syndrome

48
Q

WAGR syndrome genetic abnormality

A

deletion of genes at 11p13. PAX6 gene deletion at 11p13 caues the aniridia. WT1 gene deltion causes genital anomalies

49
Q

Depressed nasal bridge, eye puffiness, blue eyes-stellate pattern, long philtrum, wide mouth. cocktail personality

A

Williams Syndrome continuous gene deletion syndrome of genes on chromosome 7

50
Q

Complications Williams syndrome

A

supravalvar aortic stenosis, hypercalcemia

51
Q

Sex chromosomes disorders symptoms

A

10 point IQ deficient, Learning Disability generallly good outcome if low stress home

52
Q

Klinefelter syndrome: 47,XXY

A

small firm testicles; relatively long legs, gynecomastia increases breast CA risk. hypogenitalism and azospermia. May benefit from testosterone therapy

53
Q

Turner syndrome Diagnosis

A

newborns: edema of hands and feet, web neck
Adolescents: lack of puberty and short stature. also coartation of aorta

54
Q

Gene involved in short stature of Turner Syndrome 45X

A

haploinsufficiency (1 of 2 copies not present) of SHOX gene

55
Q

46, XY Female

A

SRY gene deleted (region on Y chromosome that directs gonadal differentiatio)Females need 2nd X for ovarian maintenance, thus patients have streak gonads

56
Q

X and Y chromsomes are homologs they pair at meiosis. This is mediated by

A

Pseudoautosomal regions

57
Q

predisposition to hamartomatous polyps in the GI tract- stomach, small intestine colon and rectum, bleeding and anemia

A

Juvenile polyposis syndrome (JPS) juvenile refers to the type of polyp rather than the age of onset of polyps.

58
Q

Wolf hirschhorn syndrome(WHS)

A

characterized by developmental delays, broad nasal root(greek warrior helmet) seizures, hypotonia, prenatal and postnatal growth deficiency

59
Q

WHS genetics

A

deletions in the WHS critical region on p arm of chromsome 4

60
Q

genes in this region need biallelic expression (prevents males from having a turner syndrome phenotype)

A

Pseudoautosomal region

61
Q

hypohidrotic ectodermal dysplasia- males vs. females

A

females may have a few missing teeth or patches of anhidrosis, affected sons with only 1 x-chromosome may have no teeth, anhidrosis, and sparse hair

62
Q

SRY region

A

“sex region y” necessary for male development, absence produces female phenotype, presence produces male

63
Q

skin redness and blisters- progressing to thickened skin, then hyperpigmentation

A

Incontinentia pigmenti- X-linked dominant. Defect in NEMO gene

64
Q

Hemophilia A

A

reduced factor 8, excessive bleeding. X-linked recessive

65
Q

normal at birth, progressive muscle weakness, wheelchair age 10, pseudohypertrophy, respiratory insufficiency- progression to death

A

Duchenne Muscular Dystrophy-X-linked recessive

66
Q

DMD genetics

A

DMD gene on Xp21 encodes for dystrophin

67
Q

3 kinds of cones in the retina. Maximally responsive to what colors of light?

A

Red, green, blue

68
Q

Red-green colorblindness

A

X-linked recessive mutation of opsins(photoreceptors) 8% of men 0.5% of women

FMS (2 decks)

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