Genetic Abnormalities in MSK Disease Flashcards
1
Q
Hereditary exostoses (osteochondromas)
A
LOF mutation in EXT1 or EXT2
2
Q
Chondromas
A
IDH1 or IDH2
3
Q
Osteosarcomas
A
RB, TP53, INK4a, MDM2, CDK4
4
Q
Chondrosarcoma
A
DNA methylation of CDKN2A
5
Q
Ewing Sarcoma Family Tumors
A
(11;22) translocation → fusion of EWS to FLI1
6
Q
Osteogenesis imperfecta
A
mutations in type I collagen
7
Q
Achondroplasia
A
GOF mutation in FGFR3
8
Q
Osteopetrosis
A
LOF mutation in RANKL (AD)
LPR5 mutation
CA2 mutation
CLCN7 mutation
9
Q
Brachydactyly
A
HOXD13 txn factor
10
Q
Campomelic dysplasia
A
SOX9 txn factor
11
Q
Cleidocranial dysplasia
A
RUNX2 txn factor
12
Q
Holt-Oram syndrome
A
TBX5 txn factor
13
Q
Nail-Patella syndrome
A
LMX1B txn factor
14
Q
Waardenburg syndrome
A
PAX3 txn factor
15
Q
Achondrogenesis type II
A
COL2A1 (type II collagen)
