Human Diseases Associated with Copy Number Variants

TABLE 6.5 Human Diseases Associated with Copy Number Variants
Disease Gene
Alzheimer disease APP
Autsomal dominant LMNBI
adrenoleukodystrophy
Charcot-Marie-Tooth PMPZZ
Type IA
Drug metabolism CYP2D6
HIV infection/AIDS CCL3L7
Lupus FCGRBB
Parkinson’s disease SNCA
Smith-Magenis syndrome RAH
X—linked hypopituitarism SOXB
Phenotype
Buildup of amyloid protein precursor, death of certain brain
cells
Abnormalities of white matter in brain, breakdown of
myelin sheath surrounding nerves
Numbness in arms, legs, breakdown of myelin sheath
surrounding nerves
Increase or decrease in rate of drug metabolism, causing
side effects and variation in effectiveness of drug
Increased susceptibility to HIV infection and AIDS
Increased susceptibility to kidney failure
Death of certain brain cells, tremors, increasing rigidity of body
Mental retardation
Short stature, mild mental retardation; affects mostly males