154
Alternatively Spliced Genes
Tab. 4
Examples of human diseases associated with aberrant or defective pre-mRNA splicing.
Diseases
Genes
Aberrant splicing
Malignancies
Lung cancer
p53, p51, CD44, EGFR
Aberrant or defective
splicing products
Cancer in different
tissues
p53, CD44
Defective or aberrant
splicing isoforms
Wilm’s tumor
CD44
Aberrant splicing isoforms
Breast cancer
HER2/neu
Aberrant splicing and
imbalance of splicing
isofors
Breast and ovarian
cancer
BRCA1, BRCA2
Exon skipping
Breast cancer,
rhabdomyosarcoma
Mdm2
Oncogenic variants lacking
p53-binding domain
Glioblastomas
Mdm2
Oncogenic variants lacking
p53-binding domain
Neuro±bromatosis
type 1
NF-1
Exon skipping
Neuroblastoma
HUD, HUC, NNP-1,
α
-internexin
Production of tumor
antigens
AML
MLL-SEPTIN6
MLL-SEPTIN6
fusion-splicing variants
Cardiovascular
diseases
Hypercholesterolemia
LDLR
Cryptic ss usage, exon
skipping
Hypertriglyceridemia
Hepatic lipase
Cryptic ss usage
Marfan syndrome
Fibrillin-1
Cryptic ss usage, exon
skipping
Cardiomyopathy
cTNT
Aberrant splicing isoforms
Hypertension
G-protein
β
3
Exon skipping
Metabolic diseases
Glycogen storage
disease, type II
Lysosomal
α
-glucosidase
Cryptic ss usage
Hereditary
tyrosinemia, Type I
Fumarylacetoacetate
hydrolase
Exon skipping
Acute intermittent
porphyria
Porphobilinogen
deaminase
Exon skipping
Ceruloplasmin
de±ciency
Ceruloplasmin
Cryptic ss usage
Fabry’s disease
Lysosomal
α
galactosidase A
Cryptic ss usage
Tay–Sach’s Disease
β
-hexosaminidase
Intron retention, exon
skipping
Sandhof disease
β
hexosaminidase
β
-subunit
Cryptic ss usage
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