Gain of Function

Question 1

Hemoglobin Kempsey

Answer 1

Asp99Asn missense mutation

Question 2

Asp99Asn missense mutation

Answer 2

Hemoglobin Kempsey

Question 3

Hemoglobin Kempsey - Symptoms

Answer 3

hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia

Question 4

hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia

Answer 4

Hemoglobin Kempsey - Symptoms

Question 5

Achodroplasia

Answer 5

FGFR3 (fibroblast growth factor receptor 3)

Question 6

FGFR3 (fibroblast growth factor receptor 3)

Answer 6

Achodroplasia

Question 7

Achodroplasia - symptoms

Answer 7

Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing

Question 8

Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing

Answer 8

Achodroplasia - symptoms

Question 9

Charcot-Marie-Tooth disease

Answer 9

duplication of PMP22 gene, leading to elevated PMP22 protein

Question 10

duplication of PMP22 gene

Answer 10

Charcot-Marie-Tooth disease

Question 11

Charcot-Marie-Tooth disease - Symptoms

Answer 11

lower extremities with weakness and muscle atrophy and mild sensory loss

Question 12

lower extremities with weakness and muscle atrophy and mild sensory loss

Answer 12

Charcot-Marie-Tooth disease - Symptoms

Question 13

Alzheimer’s in Trisomy 21

Answer 13

3 total copies of the APP (21q21) leading to increased production of APP protein