Genetic Translocations Flashcards
1
Q
Ehler’s danlos
A
COL3A1 gene
2
Q
Achondroplasia
A
FGFR3
3
Q
Larsen syndrome
A
autosomal dominant mutation in FLNB gene
4
Q
PVNS
A
CSF-1R (colony-stimulating factor 1 receptor)
5
Q
What genetic mutation occurs in achondroplasia?
A
FGFR3
6
Q
What genetic mutation occurs in Hurler Syndrome?
A
IDUA (IDUA gene encodes a protein that breaks down muchopolysaccharides)
7
Q
What genetic mutation occurs in Marfan Syndrome?
A
FBN-1 (Fibrillin 1)
8
Q
What genetic mutation occurs in Cleidocranial dysplasia and what are the hallmark features?
A
RUNx2 (master switch for development of bone/teeth).
Absent/hypoplastic clavicles (can be asked/in a question as - can touch their shoulders together). Also with short stature, genu valgum, mild scoliosis, prominent forehead
