Mutations

Question 1

Mutation in gene encoding LDL receptor

Answer 1

Familial hypercholesterolemia

Question 2

Point mutation in JAK2 or MPL

Answer 2

Essential Thrombocytosis

Question 3

Mutations of ankyrin, spectrin

Answer 3

Hereditary Spherocytosis

Question 4

Point mutation in the 6th codon of beta-globulin

Replacement of glutamate with valine

Answer 4

Sickle Cell Anemia

Question 5

Acquired mutation in the phosphatidyl inositol complementation group A (PIGA)

Answer 5

Paroxysmal Nocturnal Hemoglobinuria

Question 6

SMN1 mutation

Answer 6

Spinal Muscular Atrophy/

Infantile Motor Neuron Disease

Question 7

DMD gene mutation

Answer 7

Duchenne Muscular Dystrophy

DMD gene codes for dystrophin

Question 8

Mutation in EWS gene on chromosome 22

Answer 8

Ewing sarcoma

Question 9

Mutation in RANK/RANKL signaling pathway

Answer 9

Osteoclastoma/

Giant-cell tumor

Question 10

Mutation in ANKH gene

Answer 10

Pseudogout/ Chondrocalcinosis/ Calcium Pyrophosphate Crystal Deposition Disease (CPPD)

Question 11

Mutation in SOD1 gene in chromosome 21 encoding copper-zinc superoxide dismutase

Answer 11

Amyotrophic Lateral Sclerosis

Question 12

Mutation in TSC1 gene in chromosome 9

Answer 12

Tuberous Sclerosis

Question 13

WNT signaling pathway mutation

Answer 13

Craniopharyngoma