Genetics of Inherited Disease

Question 1

What is trisomy 18 called?

Answer 1

Edward’s syndrome

Question 2

Describe Edward’s syndrome:

Answer 2

Prominent occiput, dysplastic or malformed ears, clenched hand with overlapping fingers, shield chest or short

Question 3

What is trisomy 13 called?

Answer 3

Patau syndrome

Question 4

Describe patau syndrome

Answer 4

Cleft lip, no eyebrows, undescended or abnormal testes

Question 5

What is XXY called?

Answer 5

Klinefelters syndrome

Question 6

Describe Klinefelters

Answer 6

Feminine physique on a dude. Small testes

Question 7

What is the gene affected in Marfan’s?

Answer 7

Fibrillin 1

Question 8

What is the gene affected in familial hypercholesterolemia?

Answer 8

Nearly all include a mutation in the LDL receptor gene

Question 9

What is a deadly consequence of Ehlers Danlos?

Answer 9

Vascular abnormalities

Question 10

Which chromosome is the cystic fibrosis gene on ?

Answer 10

7

Question 11

Describe the pathogenesis of PKU

Answer 11

Defect in PAH, which usually converts phenylalanine –> tyrosine

Tyrosine builds up –>pigments, neurotransmitters –> mental retardation and seizures

Question 12

What is the smell associated with PKU?

Answer 12

Excretions have a “musty” smell

Question 13

What is the inheritance pattern of Duchenne’s Muscular dystrophy?

Answer 13

X-linked recessive - only shows up in boys

Question 14

What is the gene affected in Duchenne’s Muscular dystrophy?

Answer 14

Dystrophin gene

Question 15

What is the gene affected in incogtinentia pigmati

Answer 15

IKBKG

Question 16

What is the clinical presentation of incogtinentia pigmati?

Answer 16

blistering rash at birth which heals, followed by development of wart-like skin growth

Kids develop grey/brown swirly patches of skin in swirled patterns

Adults have hypopigmentation

Question 17

What is the inheritance pattern of Rett syndrome?

Answer 17

X-linked Dominant

Question 18

What is the gene affected in Rett syndrome?

Answer 18

MECP2

Question 19

What are the clinical signs of Rett syndrome?

Answer 19

progressive motor, cognitive, emotional, and autonomic impairment

Often misdiagnosed as cerebral palsy, autism etc..

Question 20

What is the inheritance of fragile X syndrome?

Answer 20

X-linked dominant

Question 21

What is the genetic abnormality in fragile X syndrome?

Answer 21

FMR-gene has CAG repeats

Question 22

Name two intronic mutations that promote disease

Answer 22

HOTAIR mutation –> silences HOX target gene in cancer

BASE1-AS- stabilizes BASE-1, increased amyloid formation (alzheimer’s)

Question 23

Does Prader Willi occur when the gene from mom or dad is deleted/

Answer 23

When the gene is deleted from the Dad, Prader Willi occurs

Question 24

Describe myotonic dystrophy through the generations

Answer 24

Grandma: bilateral cataracts
Mom: facial weakness, myotonia and cataracts
Baby: congenital myotonic dystrophy

Question 25

What is the inheritance pattern of leber hereditary optic neuropathy?

Answer 25

Mitochondrial

It is a form of spontaneous blindness