26 genes Flashcards
1
Q
↓ EXT1, EXT2
A
- Osteochondroma (exostosis)
- Multiple Hereditary Exostosis Syndrome
2
Q
LOF chr 1q42 (fumarate hydratase - Krebs cycle enzyme).
A
leiomyoma
3
Q
t(12;16)
A
myxoid liposarcoma
4
Q
inacticating OPG mutations
A
Pagets dis (osteitis deformans)
5
Q
mutations of COL1A1 and COL1A2 mutations (Α1 and α2 chains of type I collagen)
A
osteogenesis imperfecta
6
Q
CDK4
A
osteosarcoma
7
Q
MDM2
A
osteosarcoma
8
Q
HOXD13
A
brachydactly D and E
9
Q
TP53
A
osteosarcoma
10
Q
USP6 overexpression
A
Aneurysmal Bone Cyst (ABC)
11
Q
SQSTM1
A
familial Pagets dis (osteitis deformans)
12
Q
CA2
A
osteopetrosis
13
Q
↓ or abnormal synthesis of glycosaminoglycans
A
Osteochondroma (exostosis)
14
Q
GoF FGFR3, from paternal
A
- achondroplasia
- Thanatophoric dysplasia (but diff)
15
Q
HER2
A
osteosarcoma
