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Neo Board Review MAP > Genetics > Flashcards

Genetics Flashcards

1
Q

Genetics of Beckwith Wiedemann syndrome

A

Genomic imprinting: 11p15.5, IGF2 gene, two copies from dad leading to over expression of IGF2

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2
Q

Genetics of Simpson-Golabi-Behmel (SGB)

A

Xq26.2

Loss of function variants in GPC3 (growth modulator proteoglycan) 

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3
Q

Symptoms of Sotos syndrome

A

Triad

  • overgrowth (length >99% due to long limbs, macrocephaly, advanced bone age)
  • characteristic facial features (frontal bossing, dolichocephaly, fronto-parietal balding, early erruption of teeth, high arched palate
  • learning/intellectual disabilities, seizures

Can be confused with Marfan’s and fragile X

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4
Q

Genetics of Donahue syndrome

A

Mutation of insulin receptor gene on 16p13.2

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5
Q

Symptoms of Beckwith Wiedemann

A 
Macrosomia
Visceromegaly
Neonatal hypoglycemia
Omphalocele
Ear creases and pits
Hemihypertrophy
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6
Q

Symptoms of Simpson-Golabi-Behmel (SGB)

A 
Increased wt/lt/ht
Hypertelorism
Broad upturned nose
Macroglossia
Supernumerary nipples
Pectus excavatum
Hypotonia
Cleft lip or palate
Can be confused with BWS
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7
Q

Genetics of Sotos syndrome

A

Autosomal dominant disorder
Mutations in the NSD1 gene on 5q35
Almost all de novo mutations

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8
Q

Symptoms of Donohue syndrome

A

Fasting hypoglycemia and hyperinsulinism with postprandial hyperglycemia

IUGR
Reduced subcutaneous fat
Distended abdomen
Enlarged external genitalia and nipples
(Large and lowset ears, prominent eyes, broad nasal tip, flared nares, thick lips and gingival hyperplasia)
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9
Q

Primary skeletal dysplasia

A

Mutated genes expressed in chondro-osseous tissue

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10
Q

Secondary skeletal dysplasia

A

Abnormalities of extraosseous factors with secondary effects on the skeletal system

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11
Q

Skeletal dysostoses

A

Malformations of bones as a result of an insult during organogenesis

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12
Q

COL1A

A

Osteogenesis imperfecta type 1-4

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13
Q

FGFR3

A

Thanatophoric dysplasia and achondroplasia

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14
Q

COL2A

A

Stickler syndrome

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15
Q

EVC1/2

A

Ellis-van Creveld syndrome

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16
Q

IFT80

A

Jeune syndrome

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17
Q

Disorders associated with advanced paternal age

A 
Achondroplasia
Apert syndrome
Crouzon syndrome
Neurofibromatosis I
Osteogenesis imperfecta
Pfeiffer syndrome
Retinoblastoma
Thanatophoric dysplasia
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18
Q

Deformation

A

Altered mechanical forces (extrinsic or intrinsic) on normal tissue
Ex: fetal akinesia sequence, Positional congenital hip subluxation

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19
Q

Malformation

A

Caused by abnormal tissue formation

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20
Q

Disruption

A

Breakdown of normal tissue caused by disruption of a normal developmental process
Ex: amniotic band sequence, Teratogen exposure

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21
Q

Dysplasia

A

Abnormal organization of cellular formation into tissue as a result of dysregulation

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22
Q

Syndrome

A

Pattern of many primary malformations as a result of one etiology

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23
Q

Legius syndrome

A

Café au lait spots
Axillary/inguinal freckling
Macrocephaly
Learning disabilities

Can be confused with NF1
AD, mutation in SPRED1 gene

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24
Q

Genetic defect in cartilage hair hypoplasia

A

Chromosome 9p13

RMRP

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25
Q

Symptoms of cartilage hair hypoplasia

A

Short-limbed dwarfism
Hypotrichosis
Hirschsprung’s
Severe combined immunodeficiency

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26
Q

Disorders with cataracts

A 
Galactosemia
Congenital hypoparathyroidism
Fabry disease
Lowe Syndrome (oculocerebrorenal)
Congenital rubella
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27
Q

Genetic defect in galactosemia

A

GALT

Deficiency of galactose-1-phosphate uridyltransferase

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28
Q

Defect in Fabry disease

A

Mutation in GLA

X-linked deficiency a-galactosidase A

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29
Q

IEM that are not autosomal recessive

A

OTC deficiency
X-linked ALD
Hunters

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30
Q

Examples of amino and organic acid acidopathies

A 
PKU
Tyrosinemia
MSUD
Nonketotic hyperglycemia
Propionic acidemia
Methylmalonic acidemia
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31
Q

Phenylalanine hydroxylase

A

Defective enzyme in PKU

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32
Q

Urine organic acids with elevated succinylacetone

A

Tyrosinemia I

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33
Q

Fumarylacetoacetate hydrolase

A

Deficient enzyme in tyrosinemia type I

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34
Q

Symptoms of Tyrosinemia Type I

A

Hepatic failure, Fanconi syndrome

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35
Q

Branched chain ketoacid dehydrogenase

A

Enzyme defect in maple syrup urine disease

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36
Q

Symptoms of MSUD

A

Poor feeding, lethargy, coma, apnea

Cerebral edema = dreaded complication

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37
Q

Which amino acids are elevated in MSUD?

A

Leucine
Isoleucine
Valine

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38
Q

Glycine cleavage system

A

Defect = nonketotic hyperglycemia

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39
Q

Elevated CSF/plasma glycine ratio

A

Diagnostic for nonketotic hyperglycemia

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40
Q

Symptoms of nonketotic hyperglycemia

A

Seizures, myoclonus, hiccups

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41
Q

Propionyl CoA carboxylase

A

Defective enzyme in propionic acidemia

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42
Q

Symptoms of propionic acidemia

A 
Lethargy, coma
Anion gap metabolic acidosis
Hyperammonemia
Neutropenia, thrombocytopenia
Hyperglycemia
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43
Q

Diagnosis of propionic acidemia

A

Elevated C3
Elevated glycine
Methylcitrate in urine

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44
Q

Treatment of propionic acidemia

A

Diet with decreased VOMITC

Carnitine

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45
Q

Treatment of nonketotic hyperglycemia

A

Hemodialysis

Benzoate (removes glycine)

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46
Q

Methylmalonyl CoA mutase

A

Enzyme deficient in methylmalonic acidemia

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47
Q

Symptoms of methylmalonic acidemia

A 
Lethargy, coma
Anion gap metabolic acidosis, hyperammonemia
Neutropenia
Thrombocytopenia
Hyperglycemia
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48
Q

Diagnosis of methylmalonic acidemia

A

Elevated C3
Elevated urine methylmalonic acid
Elevated plasma glycine
Normal homocystine

B12 deficiency can cause elevated methylmalonic acid (maternal deficiency = baby positive for MMA on NBS)

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49
Q

Examples of urea cycle disorders

A

Ornithine transcarbamylase deficiency
Citrullinemia
Argininemia

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50
Q

Encephalopathy and hyperammonemia

A

Urea cycle defects

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51
Q

Increased orotic acid and decreased citrulline

A

OTC deficiency

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52
Q

Symptoms of OTC deficiency

A

After 48 hours
Poor feeding, grunting, lethargy, coma

Affected first born males usually die or are severely impaired

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53
Q

Treatment of OTC deficiency

A

Stabilize until liver transplant
Low protein diet
Ammonia scavenging drugs - phenylbutyrate, glycerol phenylbutyrate
Arginine

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54
Q

Argininosuccinate synthase 1

A

Enzyme defect in citrullinemia

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55
Q

Increased citrulline and decreased arginine

A

Citrullinemia

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56
Q

Symptoms of citrullinemia

A

Hyperammonemic crisis

Can have orotic acid elevations

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57
Q

Arginase

A

Enzyme defect in arginase deficiency (Argininemia)

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58
Q

Decreased urea and decreased ornithine

A

Arginase deficiency

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59
Q

Symptoms of arginase deficiency

A

Sometimes only spastic diplegia and delayed milestones
Can see hyperammonemia
Arginine levels high

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60
Q

Hyperammonemia with acidosis andelevated ketones

A

Organic acidemia

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61
Q

Hyperammonemia with acidosis andlow ketones

A

Fatty acid oxidation defect

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62
Q

Hyperammonemia with no acidosis

A 
Urea cycle defects:
Citrullinemia
Argininemia
Argininosuccinic aciduria
OTC deficiency (elevated orotic acid)
CPS deficiency (low orotic acid, trace citrulline)
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63
Q

Galactosemia associated with

A

E. coli sepsis/UTI, jaundice, urine reducing substances

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64
Q

Untreated galactosemia leads to…

A

Intellectual disability
Cataracts
Liver failure
Death

65
Q

Despite treatment of galactosemia patients can still have

A

Cognitive defects

Premature ovarian failure

66
Q

Aldolase B

A

Enzyme defect in hereditary fructose intolerance

67
Q

Neonate with liver failure due to IEM

A

Tyrosinemia type 1
Galactosemia
Hereditary fructose intolerance

68
Q

Alpha-L-Iduronidase

A

Enzyme deficiency in MPS type 1 (Hurler)

69
Q

Symptoms of MPS type 1

A 
Normal at birth
Coarse facies
Hepatosplenomegaly
Dysostosis multiplex (ribs look like oars)
Corneal clouding
Intellectual disability
Hydrocephalus
Cardiac valvular disease
70
Q

How to diagnose MPS type 1

A

Urine glycosaminoglycans

Enzyme activity in WBC’s or fibroblasts

71
Q

Treatment of MPS type 1

A

Enzyme replacement therapy available but hard to get to brain
Bone marrow transplant is better

72
Q

Glucose-6-phosphatase

A

Enzyme defect in glycogen storage disease type 1A (Von Gierke)

73
Q

Hypoglycemia when infant sleep through the night

A

Glycogen storage disease 1a

74
Q

Clinical findings of glycogen storage disease 1A (Von Gierke)

A 
Hepatomegaly
Hypoglycemia
Elevated lactate
Hyperuricemia
Hyperlipidemia
Hypertriglyceridemia
75
Q

Medication for glycogen storage disease 1a

A

Allopurinol

Along with avoidance of fasting

76
Q

Alpha-1,4-glucosidase

A

Pompe disease

77
Q

Symptoms of Pompe disease

A

Dilated cardiomyopathy
FTT
Macroglossia
Hypotonia

78
Q

Hypoketotic hypoglycemic crises induced by fasting or febrile illness

A

Early presentation of fatty acid oxidation disorders

79
Q

Medium chain Acyl CoA dehydrogenase

A

Enzyme defect in MCAD deficiency

80
Q

Symptoms of MCAD deficiency

A

Hypoketotic hypoglycemia
Myopathy
Cardiomyopathy
SIDS

81
Q

Diagnosis of MCAD deficiency

A

Elevated on acylcarnitine profile
C6-, C8-, C10-, C10:1 species
Increased C8/C10:1 ratio

80% mutations c.985A>G lysine to glutamic acid

82
Q

Very long chain Acyl-CoA Dehydrogenase

A

Enzyme deficient in VLCAD deficiency

83
Q

Symptoms of VLCAD deficiency

A

Three forms
Early - severe with hypertrophic cardiomyopathy
Milder - hypoglycemia like MCAD
Episodic rhabdomyolysis

84
Q

Elevated C14:1 on acylcarnitine profile

A

VLCAD deficiency

85
Q

7-dehydrocholesterol reductase

A

Enzyme defect in Smith-Lemli-Opitz syndrome

86
Q

Symptoms of SLO

A 
Growth retardation
Mental deficiency
Cardiac defects
Ambiguous genitalia in males
2,3 toe syndactyly
Facial features
87
Q

What are peroxisomes?

A

Cytoplasmic organelles

Help with metabolism of: bile acids, VLCFA (C22,C24,C26), pipecolic acid, plasmalogens

88
Q

Peroxisome biogenesis disorders

A

Zellweger
Neonatal adrenoleukodystrophy
Infantile Refsum disease

Mutations in PEX1 common
Elevated C26:0, C26:1, C24/22, C26/22 ratios

89
Q

Symptoms of Zellweger

A 
High forehead
Large anterior fontanelle
Hypotonia
Hepatomegaly
Seizures
Liver cysts
Upslanted palpebral fissures
Flat broad nasal bridge
90
Q

Are most aneuploidies defects in meiosis 1 or meiosis 2?

A

Meiosis 1 (failure of homologues to separate, versus sister chromatids)

91
Q

What are you looking for with a karyotype?

A

Aneuploidy
Balanced translocations
Mosaicism

92
Q

What do you do if T21 is due to translocation?

A

Karyotype parents

93
Q

Most common cause of Turner syndrome?

A

45XO (50%)

Isochromosome (46iXq) Only 10%

94
Q

Is the extra genetic material in triploidy maternal or paternal?

A

Paternal

2 sperm + 1 egg

95
Q

What is triploidy associated with?

A 
Large placenta
3,4 syndactyly
Macrocephaly
Renal anomalies
Cardiac anomalies
Holoprosencephaly
Survival rare
96
Q

What genetic test to send for dysmorphic babies with unclear diagnosis?

A

MicroArray

97
Q

Symptoms of Wolf-Hirschhorn syndrome

A 
Greek helmet facies
High frontal hairline
Prominent glabella
Hypertelorism
Seizures common
Cleft lip/palette
Micrognathia
Septal cardiac defects
Genital anomalies
Coloboma
Very low IQ
98
Q

Phenylalanine crosses placenta via

A

Active transport

Fetal levels > maternal levels

99
Q

Associated with Turner syndrome

A 
Bicuspid aortic valve/coarctation
Renal anomalies
Can general hip dysplasia
Melanocytic cutaneous nevi
Streak ovaries
Normal intelligence
100
Q

Genetic causes of Prader Willi syndrome

A

Paternal microdeletion 15q11-q13 (70%)
Maternal uniparental disomy (two copies of maternal15q11-q13) (28%)
Imprinting (5%) - father passes on copy of Chr15 that he inherited from his mother (inactive)

Test of choice - Methylation test

101
Q

Rhizomelia

A

Upper parts of limbs short (humerus, femur)

Seen in achondroplasia

102
Q

Genetics of tuberous sclerosis

A

Autosomal dominant
TSC1 on 9q34.13 (Hamartin)
TSC2 on 16p13.3 (Tuberin)
Majority de novo

103
Q

Genetics of myotonic dystrophy

A

Autosomal dominant
Trinucleotide repeat (CTG) at 3’ end of the DMK gene
>2000 copies severe phenotype
Largest expansions from maternal transmission

104
Q

Genetics of Cornelia de Lange

A

Autosomal dominant (NIPBL, RAD21, SMC3)
X-linked (SMC1A, HDAC8)
Most are de novo
Can’t see on Microarray because it’s a single gene disorder - send gene panel

105
Q

CHARGE Syndrome

A 
Coloboma
Heart defects
Atresia (choanal)
Retarded growth
GU anomalies
Ear anomalies
106
Q

Genetics of CHARGE syndrome

A

60% mutations in CHD7

Chromatin helicase DNA binding protein

107
Q

What percentage of patients with Fanconi anemia meet criteria for VACTERL?

A

12%

108
Q

Genetics of Fanconi anemia

A

Autosomal recessive
Autosomal dominant (1 gene)
X-linked (1 gene)

Diepoxybutane (DEB) testing - looks for chromosome breakage only seen in Fanconi anemia
If positive send gene panel for Fanconi anemia

109
Q

Symptoms of Fanconi anemia

A 
Short stature
Microcephaly
Hypoplasic thumb/radius
GU anomalies
Hyper/hypopigmentation
Eye anomalies
Bone marrow failure
Predisposed to cancer
110
Q

Poland anomaly

A

Unilateral chest wall hypoplasia
Ipsilateral anomalies of upper extremity
Developmental defect of subclavian
Deficiency of subQ fat and axillary hair

111
Q

Genetics of Goldenhar syndrome

A

Usually sporadic
Can be AR and AD
Associated with maternal diabetes

112
Q

Symptoms of Goldenhar syndrome

A 
Oculo-auriculo-vertebral spectrum
Hypoplasia of face, jaw, cleft mouth
Microtia, preauricular tags
Hemivertebrae, hypoplastic vertebrae
Epibulbar dermoid, microophthalmia
VSD, TOF
Normal intelligence
113
Q

SNoW DRoP

A

Southern blot = DNA
Northern blot = RNA
Western blot = Protein

114
Q

William D WARP, MD

A 
Microdeletions
Williams 
DiGeorge
WAGR
Angelman
Rubenstein Taybi
Prader Willi
115
Q

Genetics of SMA

A

Biallelic deletion of SMN1 gene
Chromosome 5q13
Types classified by SMN2 copy number

116
Q

SMA type 0

A

Onset in utero, presents at birth
0 copies SMN1, 1 copy SMN 2
Can have congenital heart defects

117
Q

SMA type 1

A 
60%
2 copies SMN2
Onset <6 months old
Can’t sit
Fasciculations, areflexia, suck/swallow difficulty
Normal cognition
118
Q

SMA type 2

A 
27%
Onset 6-18 months
3 copies SMN2
Can sit but can’t stand
Hypotonia, areflexia, progressive scoliosis, polyminimyoclonus
Normal cognition
119
Q

SMA type 3

A 
12%
3-4 copies SMN2
Onset after infancy
Less severe weakness
Can lose ability to walk
Polyminimyoclonus
Normal cognition
120
Q

Treatments for SMA

A

Gene editing therapies

  • Nusinersen (anti-sense oligonucleotides) - all SMA types and all ages
  • Risdiplam (small molecules) - all SMA types >2 months of age

Gene replacement with AAV9 - onasemnogene abeparvovec
all SMA types <2 years of age

121
Q

Genetics of congenital myotonic dystrophy

A

Autosomal dominant
DMPK gene on chr 19
Genetic Anticipation
Trinucleotide repeat

122
Q

Treatment of Pompe disease

A

Enzyme replacement helps with heart and lung&raquo_space; muscle function
Critical to start therapy < six months of age

123
Q

Three types of congenital muscular dystrophy

A
  • Muscle weakness + abnormal brain MRI + cognitive delay
  • Muscle weakness + abnormal brain MRI + no cognitive delay
  • Muscle weakness + normal brain MRI + no cognitive delay
124
Q

Genetics of neurofibromatosis type 1

A

NF1 gene on 17q11.2

Gene for neurofibromin

125
Q

Genetics of neurofibromatosis type 2

A

NF2 gene on 22q12.2

Gene for MERLIN/schwannomin

126
Q

Genetics of Sturge-Weber syndrome

A

GNAQ on 9q21.2
Gene for guanine protein-binding Q polypeptide
Somatic mutation

127
Q

Genetics of incontinentia pigmenti

A

X-linked dominant (lethal in males)
NEMO gene for NK-kappa-B
IKBGK on Xq28 for inhibitor kappa light polypeptide gene enhancer

128
Q

Genetics of Kostmann syndrome

A

Autosomal recessive

HAX1 gene on 1p22.1

129
Q

Which disorder can cause a false positive for galactosemia on the newborn screen?

A

G6PD

130
Q

Genetics of pyruvate carboxylase deficiency

A

Autosomal recessive mitochondrial disorder

131
Q

Which urea cycle defects have high urine orotic acid?

A 
OTC deficiency
Argininosuccinic acid synthetase deficiency (Citrullinemia)
Argininosuccinic lyase deficiency (Argininosuccinic aciduria)
Arginase deficiency (Argininemia)

132
Q

Glucocerebrosidase

A

Enzyme defect in Gaucher I and II diseases

133
Q

Sphingomyelinase

A

Enzyme defect in Niemann-Pick A&B
Cherry red spots on macula
Foam cells in bone marrow

134
Q

Hexosaminidase A

A

Enzyme defect in Tay-Sachs

135
Q

Beta-galactosidase

A

Enzyme defect in generalized gangliosidosis infantile GM1

136
Q

Arylsulfatase A

A

Enzyme defect in metachromatic leukodystrophy

137
Q

Alpha-Galactosidase

A

Enzyme defect in Fabry disease

138
Q

Beta-galactosidase

A

Enzyme in galactosyl-ceramide lipidosis AKA Krabbe disease

139
Q

Acid lipase

A

Enzyme defect in Wolman disease

140
Q

Deafness and thyroid resistance

A

Pendred syndrome

141
Q

Genetics of Pallister-Killian mosaic syndrome (PKMS)

A

Mosaic tetrasomy of chromosome 12p

Need to send fibroblasts for genetic testing (not blood)

142
Q

Symptoms of Pallister-Killian mosaic syndrome (PKMS)

A 
Hypotonia
Cerebellar hypoplasia or atrophy
Frontal bossing
Low set ears
Small hands and feet
143
Q

Findings in pyruvate carboxylase deficiency

A

Hyperammonemia
Ketonuria
Elevated pyruvate and lactate
Metabolic acidosis

144
Q

Treatment of pyruvate carboxylase deficiency

A

Biotin

145
Q

Lipidoses

A

Gaucher: no cherry red spots, +HSM, gaucher cells BM
Neiman-Pick: cherry red spots, +HSM, foam cells BM
Tay-Sachs: cherry red spots, no HSM

146
Q

Genetics of Wolf-Hirschhorn syndrome

A

Partial deletion of 4p
80% paternally derived chromosome
10-15% are due to translocation (2:1 maternal:paternal)

147
Q

Genetics of Cri du chat syndrome

A

Partial monosomy of chromosome 5p

80% paternally derived

148
Q

Symptoms of Cri du chat syndrome

A 
Cat like cry due to abnormal laryngeal development
Microcephaly
Round face
Broad nasal bridge
Hypotonia
Agenesis of the corpus callosum
Cerebellar hypoplasia
ASD, VSD, TOF
Renal agenesis/horseshoe kidney
149
Q

Genetics of fragile X syndrome

A

Trinucleotide repeat
FMR1 gene located at Xq27.3
Affected individuals have >200 repeats

150
Q

Symptoms of fragile X syndrome

A 
Macrocephaly
Large ears
Cleft palate
Hypotonia
Mitral valve prolapse/aortic dilation
Autism
Intellectual disability
Large testes
151
Q

Symptoms of pyruvate dehydrogenase deficiency

A 
Hypotonia
Seizures
Lactic acidosis
Elevated alanine
Microcephaly
152
Q

Genetics of pyruvate dehydrogenase deficiency

A

Most common is X-linked dominant
Can also be autosomal recessive
PDHA1 gene

153
Q

Genetics of Lowe syndrome

A

X-linked

OCRL gene on Xq25-26

154
Q

Genetics of cartilage hair hypoplasia

A

RMRP gene on Chr 9p13
AR
Amish/Finnish

155
Q

Genetics of leukocyte adhesion deficiency

A

Autosomal recessive
Beta-2 integrin gene mutations (ITGB2)
Integrins associated with CD18

156
Q

Genetics of Shwachman-Diamond syndrome

A

Autosomal recessive

SBDS gene on Chromosome 7q11

157
Q

Thickening of Schwalbe’s ring around the cornea

A

Posterior embryotoxin

158
Q

Genetics of Alagille

A

Autosomal dominant
JAG1 on Chr 20p12
NOTCH2 on Chr 1

159
Q

Genetics of Noonan syndrome

A

Autosomal dominant
RASopathy - RAS/MAPK
50% mutations in PTPN11 on 12q24.1

Neo Board Review MAP (18 decks)

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