Coding region / Exons / Polyglutamine (PolyQ) diseases: CAG (codes for glutamine)
- Huntington’s disease
- Spinocerebellar ataxias (SCA 1, 2, 3, 6, 7)
- Dentatorubral-pallidoluysian atrophy (DRPLA)
Non-Coding / Introns / Untranslated regions:
- Fragile X syndrome (CGG in FMR1 gene, 5’ UTR)
- Friedreich’s ataxia (GAA in intron of FXN gene)
- Myotonic dystrophy type 1 (CTG in 3’ UTR of DMPK gene)
|
Disorder |
Genetic cause |
Inheritance pattern |
|
Fragile X syndrome |
CGG repeat in FMR1 gene |
X-Linked dominant |
|
Friedreich’s ataxia |
GAA repeat in FXN gene |
Autosomal recessive |
|
Myotonic dystrophy |
CTG repeat in DMPK gene |
Autosomal dominant |
|
Hutington’s disease |
CAG repeat in HTT gene |
Autosomal dominant |
|
Spinocerebellar Ataxia |
Various repeats in different |
Autosomal dominant |
Extra point:
Pompe disease (Glycogen storage disease type II)-
• Autosomal recessive inheritance.
• Due to deficiency of the enzyme acid alpha-glucosidase (GAA).
• Mutation in the GAA gene on chromosome 17.