Genetic Mutation Diseases

Front 1

Imprinting

Back 1

• Only one allele is active at loci
• --other may be methylated
• Causes Disease

Front 2

Prader-Willi Syndrome

Cause

Back 2

• Maternal Imprinting
• Paternal gene is deleted/mutated

Front 3

Prader-Willi Syndrome

Symptoms

Back 3

• Hyperphagia
• Obesity
• Intellectual disability
• Hypogonadism
• Hypotonia

Front 4

AngelMan Syndrome

Causes

Back 4

• Paternal imprinting
• Maternal gene is deleted/mutated

Front 5

AngelMan Syndrome

Symptoms

Back 5

• Inappropriate laughter "happy puppet"
• Seizures
• Ataxia
• severe intellectual disability

Front 6

Back 6

Autosomal Dominant

Pedigree

Front 7

Back 7

Autosomal Recessive

Pedigree

Front 8

Back 8

X-Linked Recessive

Pedigree

Front 9

Back 9

X-Linked Dominant

Pedigree

Front 10

Back 10

Mitochondrial Inheritance

Pedigree

Front 11

Autosomal Dominant

Cause

Back 11

• Defects in structural genes

Front 12

Autosomal Dominant

Signs

Back 12

• Many generations affected
• --Family History
• Male and female
• Pleiotropic
• Variable expressive

Front 13

Autosomal Recessive

Causes

Back 13

• Enzyme deficiency

Front 14

Autosomal Recessive

Signs

Back 14

• Usually seen in only 1 generation
• Often present in childhood-severe
• high risk in consanguineous families

Front 15

X-linked Recessive

Back 15

• Sounds of heterozygous mothers have 50% change of being affected
• no male-to-male transition
• skips generations

Front 16

X-linked Dominant

Back 16

• Hypophosphatemic Rickets
• Rett syndrome
• Fragile X syndrome
• Alport Syndrome

Front 17

Mitochondrial inheritance

Back 17

• All offspring of affected females must show signs of disease
• Variable expression
• Mitochondrial myopathies
• --myopathy, lactic acidosis, CNS disease,

Front 18

Achondroplasia

Classification

Back 18

• Autosomal dominant

Front 19

Achondroplasia

Back 19

• Most common cause of dwarfism
• limb length affected more than head or torso size
• Full penetrance

Front 20

Polycystic Kidney Disease

Classification

Back 20

• Autosomal dominant

Front 21

Polycystic Kidney Disease

Back 21

• Bilateral massive enlargement of kidneys
• mutation in chromosome 16, 4

Front 22

Huntington Disease

Classification

Back 22

• Autosomal Dominant

Front 23

Huntington Disease

presentation

Back 23

• Depression
• Progressive Dementia
• Choreiform (involuntary) movements
• Caudate atrophy
• increased dopamine

Front 24

Huntington Disease

genetic mutation

Back 24

• Trinucleotide repeat disorder (chromosome 4)
• ---(CAG)
• anticipation
• increasing repeats
• decreased age of onset

Front 25

Marfan Syndrome

Classification

Back 25

• Autosomal Dominant

Front 26

Marfan Syndrome

Presentation

Back 26

• Connective tissue disorder
  
• --affects skeleton, heart and eyes
• tall with long extremities
• hypermobile joints
• long tapering fingers
• floppy mitral valve

Front 27

Cystic Fibrosis

Classification

Back 27

• Autosomal Recessive

Front 28

Cystic Fibrosis

Presentation

Back 28

• high Cl- concentrations in sweat
• can present with chronic alkalosis and hypokalemia
• Increased immunoreactive trypsinogen

Front 29

G6PD deficiency

classification

Back 29

• X-linked Recessive

Front 30

Duchenne and Becker muscular dystrophy

classification

Back 30

• X-linked Recessive

Front 31

Duchenne Muscular Dystrophy

Presentation

Back 31

• Inhibited muscle regeneration
• Weakness begins in pelvic girdle muscles and progresses superiorly
• patients use upper extremities to help them stand up
• Waddling gait
• Onset before 5 y.o

Front 32

Duchenne Muscular Dystrophy

Genetic mutations

Back 32

• typically due to a frameshift or nonsense mutation

Front 33

Becker Muscular Dystropy

Presentation

Back 33

• Less severe then ducheene
• Onset in adolescence or early adulthood

Front 34

Becker Muscular Dystropy

Genetic Mutation

Back 34

• Non-frameshift insertions
• --partially functional instead of truncated

Front 35

Fragile X syndrome

classification

Back 35

• X-linked dominant

Front 36

Fragile X Syndrome

presentation

Back 36

• Intellectual disability
  
• post pubertal macroorchidism
• Long face with large jaw
• large everted ears
• Autism
• Mitral valve prolapse

Front 37

Fragile X syndrome

genetic mutation

Back 37

• Trinucleotide repeat (CGG)
• increased methylation
• -- decreased expression

Front 38

Myotonic dystrophy

genetic mutation

Back 38

• trinucleotide repeat expansion

Front 39

Trinucleotide repeat expansion

diseases

Back 39

X-Girlfriend's First-Aid Helped Ace My Test

• Fragile X = (CGG)
• Friedreich ataxia = (GAA)
• Huntington = (CAG)
• Myotonic dystrophy = (CTG)

Try (trinucleotide) hunting for my fried eggs (X)

• Huntington
• myotonic dystrophy
• Friedreich ataxia
• Fragile X syndrome

Front 40

Down Syndrome

classification

Back 40

• Autosomal trisomies

Front 41

Down Syndrome

genetic mutation

Back 41

• Trisomy (21)
• 95% of cases due to meiotic nondisjunction
• --increased with advanced maternal age)
• 4% due to unbalanced Robertsonian translocation
• -- chromosomes 14 and 11
• 1% mosaicism (no maternal association)

Front 42

Down Syndrome

Presentation

Back 42

• Intellectual disability
• flat face
• prominent epicentral folds
• single palmar crease
• gap between first 2 toes

Front 43

Edwards Syndrome

Classification

Back 43

• Trisomy (18)

Front 44

Edwards Syndrome

Presentation

Back 44

• Severe intellectual disability
• rocker-bottom feet
• micrognathia (small jaw)
• low-set Ears
• clenched hands with overlapping fingers
• Death usually occurs within first year

Front 45

Patau Syndrome

Classification

Back 45

• Trisomy (13)

Front 46

Patau Syndrome

Presentation

Back 46

• Severe intellectual disability
• rocker-bottom feet
• microphtalmia
• microcephaly
• cleft lip/palate
• holoProsencephaly
• Polydactyly
• Death usually occurs within 1 year of birth

Front 47

Cri-du-chat Syndrome

Classification

Back 47

• micro deletion of short arm
• - chromosome 5

Front 48

Cri-du-chat

Findings

Back 48

• microcephaly
• moderate to severe intellectual disability
• high-pitched crying/mewing
• epicentral folds
• Cardiac abnormalities (VSD)

Front 49

Williams Syndrome

classification

Back 49

• congenital micro deletion of long arm
• chromosome 7
• region includes elastin gene

Front 50

Williams Syndrome

Findings

Back 50

• distinctive "elfin" faces
• intellectual disability
• hypercalcemia
• --increased sensitivity to vitamin D
• well-developed verbal skills
• extreme friendliness with strangers
• cardiovascular problems

Front 51

22q11 deletion syndromes

Genetic mutation

Back 51

• micro deletion at chromosome 22q11

Front 52

22q11 deletion syndromes

Presentation

Back 52

CATCH-22

• variable presentation
• --Cleft palate
• --Abnormal facies
• --Thymic alpaca --> T-cell deficiency
• --Cardiac defects
• --Hypocalcemia (secondary to parathyroid aplasia)
  

Front 53

22q11 deletion syndromes

Back 53

• DiGeorge Syndrome
• Velocardiofacial Syndrome

Front 54

DiGeorge Syndrome

Back 54

• micro deletion at chromosome 22q11
• Thymic, parathyroid, and cardiac defects

Front 55

Velocardiofacial Syndrome

Back 55

• micro deletion at chromosome 22q11
• Palate, facial, and cardiac defects