LMX1B gene - Mutated transcription factor resulting in abnormalities of the nails, knees, elbows, and pelvis.
F8 Gene (inversion in 40% of severe cases). Mutation in factor VIII or IX (clotting factor).
Duchenne Muscular Dystrophy
Dystrophin (DMD) Gene. Frameshift mutation causing non functional dystrophin protein. Dystrophin anchors muscle cell cytoskeleton to ECM so that the cell doesn't take the force of contraction. Gower's Maneuver, Progressive muscle weakness, muscle atrophy.
Sickle Cell Disease
Beta Globin Gene (HBB) single nucleotide substution. Low hemaglobin and High reticulocyte levels. Sickle shaped RBCs can result in anemia, thrombosis, ischemia, or infarction.
FBN1 gene - Connective tissue disorder, lack of fibrillin 1. Tall and slender, elongated fingers, sunken chest. Possible cardiovascular, lung, and eye complications.
Becker's Muscular Dystrophy
Dystrophin (DMD) Gene. In frame mutation leads to smaller partially functional dystrophin. Not as severe as Duchenne's.
HTT gene - Progressive neurodegeneration of neurons in the brain. Characterized by: jerky movements, forgetfulness, and dementia.
CFTR gene - Incorrect protein folding of Chloride ion channel protein. Results in thick mucus production, recurrent respiratory infection, excessive salty sweat.
FGFR3 gene - Most common form of dwarfism. Restriction of chondrocyte proliferation inhibits bone growth
Beta Globin Gene (HBB). Results in low hemaglobin and anemia.
Leber Hereditary Optic Neuropathy (LHON)
MT-ND Gene (mitochondrial NADH dehydronase) - Missense mutation in complex 1 subunit. Progressive vision loss. May be homoplastic.
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