Danon disease: Case report and detection of new mutation
- 7 July 2009
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 32 (S1), 115-122
- https://doi.org/10.1007/s10545-009-1097-9
Abstract
Danon disease is an X‐linked disorder resulting from mutations in the lysosome‐associated membrane protein‐2 (LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscle and leukocytes, western blot analysis of leukocytes and cardiac muscle, flow cytometry, and DNA sequencing were performed. Muscle biopsy revealed autophagic vacuolar myopathy and lack of immunohistochemically detectable LAMP‐2. Diagnosis of Danon disease was confirmed by western blot analysis of myocardial tissue and peripheral blood sample of the patient showing deficiency of LAMP‐2 in myocardium and leukocytes. Moreover, absence of LAMP‐2 in lymphocytes, monocytes and granulocytes was shown by flow cytometric analysis. Genetic analysis of the LAMP2 gene revealed a novel 1‐bp deletion at position 179 (c.179delC) at the 3′ end of exon 2, resulting in a frameshift with a premature stop codon.Keywords
Funding Information
- Austrian Science Fund (SFB‐F1816)
This publication has 14 references indexed in Scilit:
- Lounging in a lysosome: the intracellular lifestyle of Coxiella burnetiiCellular Microbiology, 2007
- Retinopathy in Danon DiseaseAmerican Journal of Ophthalmology, 2007
- Ophthalmic Manifestations of Danon DiseaseOphthalmology, 2006
- Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon DiseaseThe American Journal of Pathology, 2006
- Cardiomyopathy, mental retardation, and autophagic vacuolar myopathyNeurology, 1987
- Lysosomal glycogen storage disease with normal acid maltaseNeurology, 1981
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences of the United States of America, 1977
- A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye BindingAnalytical Biochemistry, 1976
- A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindingAnalytical Biochemistry, 1976
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970