Loss of Function Flashcards
Duchenne Muscular Dystrophy
DMD Xp21.2 - large deletions
DMD Xp21.2
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy - Symptoms
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
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
Duchenne Muscular Dystrophy - Symptoms
Osteogenesis Imperfecta Type 1
COL1A1 (collagen type 1 alpha 1) nonsense or stop mutation
COL1A1 (collagen type 1 alpha 1) nonsense or stop mutation
Osteogenesis Imperfecta Type 1
Osteogenesis Imperfecta Type 1 - Symptoms
multiple fractures, Blue sclera, mild short stature, adult onset hearing loss
multiple fractures, blue sclera, mild short stature, adult onset hearing loss
Osteogenesis Imperfecta Type 1 - Symptoms
Retinoblastoma
RB1 on chr. 13
RB1 on chr. 13
Retinoblastoma
Retinoblastoma - Symptoms
malignant tumor of retina
malignant tumor of retina
Retinoblastoma - Symptoms
Hereditary neuropathy with liability to pressure palsies
PMP22 gene
PMP22 gene
Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies - symptoms
limbs fall asleep
limbs fall asleep
Hereditary neuropathy with liability to pressure palsies - symptoms
mycrocephaly and mental retardation, seizures, gait disorders, tremors
Phenylketonuria (PKU)
AR
Mutation: PAH mutation–> high levels of Phe because not converted to Tyr
Phenylketonuria (PKU)
mycrocephaly and mental retardation, seizures, gait disorders, tremors
AR
Mutation: PAH mutation–> high levels of Phe because not converted to Tyr
Marfan Syndrome
Mutation: FBN1 (fibrillin extracellular matrix protein) dominant negative activity mut. reduce # of microfibrils, AD
Mutation: FBN1 (fibrillin extracellular matrix protein) dominant negative activity mut. reduce # of microfibrils, AD
Marfan Syndrome
Marfan Syndrome
systemic disorder of connective tissue in eye, skeletal, cardio Diagnosis: aortic root enlargement, ectopia lentis
systemic disorder of connective tissue in eye, skeletal, cardio Diagnosis: aortic root enlargement, ectopia lentis
Marfan Syndrom Symptoms
NF1 tumor supressor gene LOF must have mut. in both genes to show phenotype even though considered AD
Neurofibromatosis Type 1
Neurofibromatosis Type 1
NF1 tumor supressor gene LOF must have mut. in both genes to show phenotype even though considered AD
Neurofibromatosis Type 1 - Symptoms
6 cafe-au-lait spots, 2 neurofibromas plexiform, neuro fibroma, optic glioma, >2 lisch nodules
6 cafe-au-lait spots, 2 neurofibromas plexiform, neuro fibroma, optic glioma, >2 lisch nodules
Neurofibromatosis Type 1 - Symptoms
