autosomal dominant

Question 1

achondroplasia

Answer 1

cell signaling defect of fibroblast growth factor (FGF) receptor 3 - inhibit chondrocytes, cartilage growth (epiphyseal plate).

results in dwarfism.
short limbs, normal head and trunk.

Question 2

increased age of which parent assoc. with achondroplasia?

Answer 2

father

Question 3

ADPKD

Answer 3

always BILATERAL.

massive kidneys due to multiple large cysts.

Question 4

presentation of ADPKD

Answer 4

flank pain.
hematuria.
HTN.
progressive renal failure.

Question 5

90% ADPKD due to mutation in…

Answer 5

PKD1 on chromo 16

16 letters in “polycystic kidney”

Question 6

what other organ systems is ADPKD assoc. with?

Answer 6

polycystic liver disease.
berry aneurysms.
mitral valve prolapse.

Question 7

familial adenomatous polyposis

Answer 7

colon is COVERED with adenomatous polyps after puberty.

progresses to COLON CANCER unless resected.

Question 8

FAP gene mutation

Answer 8

APC gene on chromo 5

5 letters in “polyp”

Question 9

familial hypercholesterolemia

Answer 9

hyperlipidemia type IIA.

elevated LDL due to defective or absent LDL receptor.

Question 10

features of familial hypercholesterolemia (HOMOZYGOTE)

Answer 10

severe atherosclerotic dz early in life.
tendon xanthomas (Achilles).
MI may develop before age 20.

Question 11

chol levels in familial hypercholesterolemia

Answer 11

heterozygote 300 mg/dL (1:500).

homozygote 700+ mg/dL (VERY RARE).

Question 12

hereditary hemorrhagic telangiectasias

Osler-Weber-Rendu syndrome

Answer 12

inherited d/o of bld vessels.

telangiectasias.
recurrent epistaxis.
GI bleed, hematuria.
skin discolorations.
AVMs.

Question 13

hereditary spherocytosis

Answer 13

spheroid RBCs due to SPECTRIN or ANKYRIN defect.

hemolytic anemia.
increased MCHC**

Question 14

cure for hereditary spherocytosis

Answer 14

splenectomy

Question 15

Huntington’s disease

Answer 15

trinucleotide repeat d/o (CAG).

gene on chromo 4 (“Hunting 4 food”).

Question 16

findings in Huntington’s disease

Answer 16

depression.
progressive dementia.
choreiform mvmts.
CAUDATE atrophy.
decreased levels of GABA and ACh in brain.

sx manifest between age 20-50.

Question 17

Marfan’s syndrome

Answer 17

fibrillin gene mutation (ECM glycoprot).

conn tissue d/o affecting skeleton, heart, eyes.

Question 18

findings in Marfan’s syndrome

Answer 18

tall w/ long extremities.
pectus excavatum.
hyperextensive joints. 
long tapering fingers/toes (arachnodactyly).
subluxation of lenses**

Question 19

how does Marfan’s syndrome affect heart?

Answer 19

cystic medial necrosis of aorta =
aortic incompetence, dissecting aortic aneurysms.

floppy mitral valve.

Question 20

multiple endocrine neoplasias (MEN)

Answer 20

1, 2A, 2B.

familial tumors of endocrine glands.

Question 21

what gene are MEN 2A and 2B assoc with?

Answer 21

ret

Question 22

neurofibromatosis type 1 (von Recklinghausen’s disease)

Answer 22

affects neurofibromin.

long arm of chromo 17 (17 letters in “von Recklinghausen”).

Question 23

features of NF1

Answer 23

cafe au lait spots.
neural tumors.
Lisch nodules (iris).
skel d/o, scoliosis.
optic pathway gliomas.

Question 24

Lisch nodules

Answer 24

pigmented iris hamartomas

Question 25

neurofibromatosis type 2

Answer 25

affects merlin.

NF2 gene on chromo 22.

Question 26

features of NF2

Answer 26

bilateral acoustic scwannomas.

juvenile cataracts.

Question 27

tuberous sclerosis

Answer 27

facial lesions (adenoma sebaceum).
ash leaf spots on skin.
cortical and retinal hamartomas.
seizures.
MR.
renal cysts.
renal angiomyolipoma.
cardiac rhabdomyoma.
increased incidence of astrocytoma.

Question 28

genetic features of tuberous sclerosis

Answer 28

incomplete penetrance.

variable presentation.

Question 29

von Hippel-Lindau disease

Answer 29

deletion of VHL gene (tumor suppressor) on chromo 3p.

results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.

Question 30

features of von Hippel-Lindau disease

Answer 30

hemagioblastomas (retinal, cerebellum, medulla).

50% develop bilateral RCC and other tumors.

Question 31

Li Fraumeni syndrome

Answer 31

inherited p53 mutation