IllnessTay-Sachs disease
Summary
Curated single gene sequence analysis according to the clinical suspicion Tay-Sachs disease
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
HEXA | 1590 | NM_000520.6 | AR |
Informations about the disease
The most common form of Tay-Sachs disease begins in infancy, development is normal for the first few months, then slows down with muscle weakness, startle response and loss of motor skills. Seizures, vision and hearing loss as well as paralysis are characteristic together with the "cherry red spot" in the retina. Life expectancy is reduced to a few years for the classical form. Milder forms of M. Tay-Sachs are very rare and may occur in childhood, adolescence or adulthood. Mutations in the HEXA gene prevent the lysosomal degradation of GM2 gangliosides, whose accumulation destroys CNS neurons. Inheritance is autosomal recessive, expressivity is variable within limits. Practically all mutations are sequence deviations, very rarely deletions/duplications are identified. Thus, in a "typical clinic case" a suspected diagnosis can practically always be excluded by an inconspicuous finding.
(Basic diagnostic gene: HEXA)
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1218/
- Alias: B variant GM2 gangliosidosis (HEXA)
- Alias: GM2-gangliosidosis, type I (HEXA)
- Alias: HexA deficiency (HEXA)
- Alias: Hexosaminidase A deficiency (HEXA)
- Alias: Hexosaminidase alpha-subunit deficiency, variant B (HEXA)
- Alias: Sphingolipidosis, Tay-Sachs (HEXA)
- AR
Bioinformatics and clinical interpretation
No text defined