Danon disease (glycogen storage disease Type IIb) is a rare X-linked dominant, metabolic disorder caused by mutations in the Lysosome-associated membrane protein 2 (LAMP2) gene. Mutations in LAMP2 cause reduction in the LAMP2 enzyme function, and lead to accumulation of autophagic material in the cells. The disease manifests as progressive muscular dystrophy, variable intellectual disability and cardiomyopathy – commonly hypertrophy associated with accessory pathways difficult to ablate, but patients can also exhibit a DCM phenotype.
Why to perform genetic testing in cases with suspected Danon disease?
- Diagnosis Confirmation: Early diagnosis might be a challenge, some cases can exhibit only Left Ventricular Non-Compaction phenotype, specially females. The genetic test allows early diagnosis and prompt medical intervention.
- To detect Family members at risk: When the mutation is known, other first degree relatives can be tested for that specific mutation. Particularly females since they develop the disease later than males.
- To allow prenatal counselling, since prognosis is usually poor in males, females carriers of this condition should have genetic counselling before pregnancy
Our Danon Disease test panel
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from the Danon genetic test panel: The general yield of the test is close to 90%
- Danon disease: focusing on heart. Cheng Z, Fang Q. J Hum Genet. 2012 Jul;57(7):407-10. doi: 10.1038/jhg.2012.72. Epub 2012 Jun 14.
- Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. Cheng Z, et al., Eur Heart J. 2012 Mar;33(5):649-56. doi: 10.1093/eurheartj/ehr420. Epub 2011 Nov 21.
- Lysosomal storage disorders affecting the heart: a review. Nair V, et al., Cardiovasc Pathol. 2018 Dec 1;39:12-24. doi: 10.1016/j.carpath.2018.11.002.
Download here interesting open access manuscripts on Danon’s Disease