21- Bone Formation

Question 1

Mutations Causing Loss of GNAS

Answer 1

Albright’s Hereditary Osteodystorphy

Progressive Osseus Heteroplasia

Too much bone formation

Question 2

Mutations Causing Increase in GNAS and Wnt Results in

Answer 2

Fibrous Dysplasia/McCune Albright Syndrome

Too little bone formaton

Question 3

Mutations Resulting in Loss of SOST Results in

Answer 3

Increased WNT
Increase bone growth

Van Buchem Disease

Question 4

Fibrodysplasia Ossifican Progrssiva (FOP)

Answer 4

Autosomal dominant/spontaneus mutation

Firbous tissue ossified when damaged

Joins become permanently frozen in place

Develops second skeleton