Loss of Function

Question 1

Duchenne Muscular Dystrophy

Answer 1

DMD Xp21.2 - large deletions

Question 2

DMD Xp21.2

Answer 2

Duchenne Muscular Dystrophy

Question 3

Duchenne Muscular Dystrophy - Symptoms

Answer 3

Boys with abnormal gait at 3-5 years, Calf pseudohypertrophy, Gower maneuver, Progressive involvement, of respiratory muscles, Median age of death 18 years, Women may have cardiomyopathy

Question 4

Boys with abnormal gait at 3-5 years, Calf pseudohypertrophy, Gower maneuver, Progressive involvement, of respiratory muscles, Median age of death 18 years, Women may have cardiomyopathy

Answer 4

Duchenne Muscular Dystrophy - Symptoms

Question 5

Osteogenesis Imperfecta Type 1

Answer 5

COL1A1 (collagen type 1 alpha 1) nonsense or stop mutation

Question 6

COL1A1 (collagen type 1 alpha 1) nonsense or stop mutation

Answer 6

Osteogenesis Imperfecta Type 1

Question 7

Osteogenesis Imperfecta Type 1 - Symptoms

Answer 7

multiple fractures, Blue sclera, mild short stature, adult onset hearing loss

Question 8

multiple fractures, blue sclera, mild short stature, adult onset hearing loss

Answer 8

Osteogenesis Imperfecta Type 1 - Symptoms

Question 9

Retinoblastoma

Answer 9

RB1 on chr. 13

Question 10

RB1 on chr. 13

Answer 10

Retinoblastoma

Question 11

Retinoblastoma - Symptoms

Answer 11

malignant tumor of retina

Question 12

malignant tumor of retina

Answer 12

Retinoblastoma - Symptoms

Question 13

Hereditary neuropathy with liability to pressure palsies

Answer 13

PMP22 gene

Question 14

PMP22 gene

Answer 14

Hereditary neuropathy with liability to pressure palsies

Question 15

Hereditary neuropathy with liability to pressure palsies - symptoms

Answer 15

limbs fall asleep

Question 16

limbs fall asleep

Answer 16

Hereditary neuropathy with liability to pressure palsies - symptoms

Question 17

mycrocephaly and mental retardation, seizures, gait disorders, tremors

Answer 17

Phenylketonuria (PKU)

AR

Mutation: PAH mutation–> high levels of Phe because not converted to Tyr

Question 18

Phenylketonuria (PKU)

Answer 18

mycrocephaly and mental retardation, seizures, gait disorders, tremors

AR

Mutation: PAH mutation–> high levels of Phe because not converted to Tyr

Question 19

Marfan Syndrome

Answer 19

Mutation: FBN1 (fibrillin extracellular matrix protein) dominant negative activity mut. reduce # of microfibrils, AD

Question 20

Mutation: FBN1 (fibrillin extracellular matrix protein) dominant negative activity mut. reduce # of microfibrils, AD

Answer 20

Marfan Syndrome

Question 21

Marfan Syndrome

Answer 21

systemic disorder of connective tissue in eye, skeletal, cardio Diagnosis: aortic root enlargement, ectopia lentis

Question 22

systemic disorder of connective tissue in eye, skeletal, cardio Diagnosis: aortic root enlargement, ectopia lentis

Answer 22

Marfan Syndrom Symptoms

Question 23

NF1 tumor supressor gene LOF must have mut. in both genes to show phenotype even though considered AD

Answer 23

Neurofibromatosis Type 1

Question 24

Neurofibromatosis Type 1

Answer 24

NF1 tumor supressor gene LOF must have mut. in both genes to show phenotype even though considered AD

Question 25

Neurofibromatosis Type 1 - Symptoms

Answer 25

6 cafe-au-lait spots, 2 neurofibromas plexiform, neuro fibroma, optic glioma, >2 lisch nodules

Question 26

6 cafe-au-lait spots, 2 neurofibromas plexiform, neuro fibroma, optic glioma, >2 lisch nodules

Answer 26

Neurofibromatosis Type 1 - Symptoms