Quick Snappers: Genetic Associations

Question 1

t(12;16)

Answer 1

Myxoid liposarc

Question 2

Rothmund-Thompson syndrome - name the gene affected and associated tumour

Answer 2

RECQL4 - osteosarcoma

Question 3

Osteogenesis Imperfecta Gene

Answer 3

COL1A1, COL1A2 (don’t mix up with ehler’s danlos - COL5A1/2)

Question 4

Duchenne Muscular Dystrophy

Answer 4

Dystrophin Gene

Question 5

t(12;22)

Answer 5

clear cell sarcoma

Question 6

Neurofibromatosis

Answer 6

NF1

Question 7

Spinal Muscular Atrophy

Answer 7

Survival Motor Neuro (SMN) Think: defective survival motor neuron decreases survival: SMA is often fatal

Question 8

Marfan’s

Answer 8

FBN-1 (fibrillin)

Question 9

name as many conditions as possible with multiple inheritance patterns (ortho related)

Answer 9

CMT

osteopetrosis

OI

NF

SED

Question 10

MED type 1 gene

Answer 10

COMP

Question 11

Retinoblastoma - name the gene affected and associated tumour

Answer 11

RB1 - osteosarcoma

Question 12

oilier’s disease

Answer 12

PTHR1 - GNAS1 - enchondromas, chondrosarc

Question 13

cleidocranial dysplasia gene

Answer 13

CBFA-1

Question 14

Ehlers-Danlos Gene

Answer 14

Classic: COL5A1/2 Don’t mix up with OI: COL1A1 & COL1A2

Question 15

t(2;13)

Answer 15

alveolar rhabdomyosarc

Question 16

name as many x-linked dominant conditions as possible (ortho related)

Answer 16

hypophosphatemic rickets

leri-weil dyschondrosteosis

Question 17

SED gene

Answer 17

COL2A1

Question 18

mazabraud syndrome - name the gene affected and associated tumour

Answer 18

GNAS1 - IM myxomas and fibrous dysplasia

Question 19

name as many Autosomal Dominant conditions as possible (related to ortho)

Answer 19

• achondroplasia
• metaphyseal chondrodysplasia (Schmid and Jansen types)
• Syndactyly
• polydactyly
• Marfans
• Cleidocranial dysplasia
• MHE
• MED
• Kneist’s
• ehler-danlos
• OI (type I and IV)
• osteopetrosis
• malignant hyperthermia

Question 20

t(9;22)

Answer 20

myxoid chondrosarc

Question 21

apert syndrome gene

Answer 21

FGFR2

Question 22

t(x;18)

Answer 22

synovial sarcoma

Question 23

Achondroplasia

Answer 23

FGFR3 Chris’s mnemonic: Think of a little dwarf running into battle yelling “fgfr fgfr fgfr”

Question 24

name as many Autosomal Recessive conditions as possible (related to ortho)

Answer 24

Gaucher’s

Diastrophic dysplasia

Friedrich’s Ataxia

Spinal Muscular Atrophy

Sickle cell

OI (types II, III)

hypophosphatasia

infantile osteopetrosis

Question 25

NF1 - name the gene affected and associated tumour

Answer 25

NF1 gene - neurofibromas and malignant peripheral nerve sheath tumours

Question 26

Madelung's: Gene and syndrome

Answer 26

SHOX Leri-Weill Dyschondrosteosis Mesomelic dwarf

Question 27

t(11;22)

Answer 27

Ewings/PNET

Question 28

diastrophic dysplasia gene

Answer 28

DTD

Question 29

McCune Albright syndrome - name the gene affected and associated ortho condition

Answer 29

GNAS1 - fibrous dysplasia

Question 30

Friedrich's ataxia

Answer 30

Frataxin gene

Question 31

Li Fraumeni syndrome - name the gene affected and associated tumour

Answer 31

p53. Osteosarc and rhabdomyosarc

Question 32

pseudoachondroplasia gene

Answer 32

COMP

Question 33

MHE - name the gene affected and associated tumour

Answer 33

EXT1, EXT2 - osteochondromas, secondary chondrosarc

Question 34

SED Tarda gene

Answer 34

COL2A1

Question 35

Maffucci syndrome

Answer 35

PTHR1 - enchondromas, angiomas, chondrosarc, angiosarc

Question 36

CMT

Answer 36

PMP22 - Peripheral myelin protein: CMT is a demyelinating disease

Question 37

Name as many X-linked recessive conditions as possible (related to ortho)

Answer 37

Duchenne MD Becker MD Hunter syndrome hemophilia SED tarda

Question 38

FGFR2

Answer 38

Apert's Syndrome (you said achondroplasia, didn't you...you're a disappointment) Achondroplasia is FGFR3