Genetic Association Challenge

Question 1

FGFR3

Answer 1

Achondroplasia
Hypochondroplasia

Question 2

FGFR2

Answer 2

Apert’s syndrome
Jackson-Weiss
Crouzon’s

Question 3

Collagen II

Answer 3

SED
Kneist syndrome
Stickler syndrome

KiSS
2 S’s in KiSS for collagen II

Question 4

Collagen IX

Answer 4

MED (type II)
9:02 aM

Question 5

PTH-related protein

Answer 5

Jansen’s metaphyseal chondroplasia
PJ’s

Question 6

Collage X

Answer 6

Schmid’s metaphyseal chondrodysplasia

Question 7

EXT1, EXT2

Answer 7

MHE

Question 8

Core-binding factor

Answer 8

Cleidocranial dysplasia
Core/Cleid
BinD/dysplasia

Question 9

Carbonic anhydrase II proton pump mutation

Answer 9

Osteopetrosis/ osteoclasts

Question 10

COL 1A1 (proton-alpha 1 collagen gene)

Answer 10

Osteogenesis imperfecta

Question 11

COL 2A1

Answer 11

Kneist syndrome (PTH receptor problem)

Question 12

PEX

Answer 12

X-linked hypophosphatemic rickets

Question 13

T(x;18)

Answer 13

Synovial sarcoma (lymphatic spread)

Question 14

T(2;13)

Answer 14

Rhabdomyosarcoma, alveolar

Question 15

T(12;16)

Answer 15

Myxoid liposarcoma

Question 16

T(9;22)

Answer 16

Chondrosarcoma

Question 17

T(12;22)

Answer 17

Clear cell chondrosarcoma
Trick: 3x 2’s, 3x words starting with C

Question 18

T(11;22)

Answer 18

Ewing’s sarcoma

Question 19

Dystrophin absent

Answer 19

Duchenne MD

Question 20

Dystrophin abnormal

Answer 20

Becker MD

Question 21

Survival motor neuron

Answer 21

Spinal muscular atrophy

Question 22

Peripheral myelin protein 22

Answer 22

CMT type 1A

Question 23

Connexin 32

Answer 23

CMT X-linked

Question 24

Neurofibromin (tumor suppressor gene)

Answer 24

NF1

Question 25

Merlin

Answer 25

NF2

Question 26

Schwannomin

Answer 26

NF2

Question 27

Fritaxin

Answer 27

Friedreich’s ataxia

Question 28

Fibrillin

Answer 28

Marfan syndrome

Question 29

G protein activated

Answer 29

Fibrous dysplasia

Question 30

Elastin

Answer 30

Fragile X

Question 31

Bone sialoprotein, Hyaluronan-binding protein

Answer 31

RA, advanced

Question 32

Glucocerebroside elevated

Answer 32

Gaucher disease

Question 33

Homogentisic acid

Answer 33

Ochronosis (alkaptonuria)

Question 34

CPPD

Answer 34

Pseudogout

Question 35

Hydroxyproline elevated

Answer 35

Paget disease

Question 36

Cystathionine

Answer 36

Homocystinuria

Question 37

RB

Answer 37

Neuroblastoma synndrome
-Retinoblastoma
-Osteosarcoma

Question 38

P53

Answer 38

Li-Fraumeni Syndrome
- Sarcomas
- Breast Cancer

Question 39

P16INK4a

Answer 39

Familial Melanoma Syndrome
- Chondrosarcoma
-Osteosarcoma
-Melanoma

Question 40

APC

Answer 40

Familial Adenomatous Polyposis
- Colon adenomas
-Desmoids