IllnessHypobeta-lipoproteinaemia
Summary
Curated single gene sequence analysis according to the clinical suspicion Hypobeta-lipoproteinemia
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ANGPTL3 | 1383 | NM_014495.4 | AR |
Informations about the disease
Familial Hypobetalipoproteinemia is a not-so-rare disorder (~1/2 000) that impairs the absorption and transport of lipids, thus also lowering blood cholesterol levels. The severity of symptoms varies widely, leading to liver steatosis or cirrhosis in severe cases. Fat-soluble vitamins like E and A are less efficiently absorbed, and deficiency symptoms include peripheral and/or central neurodegeneration, hemolysis, retinopathy and coagulopathies. In children, digestive problems can lead to failure to thrive. Several monogenic cases are caused by mutations in the ANGPTL3 gene next to variations in the APOB gene and less commonly by defects in several other genes. In complex cases, multiple genetic variations appear to be involved in interactions that are not yet well understood (including genes that may not yet be identified). The diagnostic yield depends on the clinical workup. Negative DNA test results do not exclude clinical diagnosis.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK570370/
- Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
- Hypolipidemia, familial, combined (ANGPTL3)
- AR
Bioinformatics and clinical interpretation
No text defined