Danon disease: Case report and detection of new mutation

Summary 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. Immunohis...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2009-12, Vol.32 (Suppl 1), p.115-122
Main Authors: Regelsberger, G., Höftberger, R., Pickl, W. F., Zlabinger, G. J., Körmöczi, U., Salzer-Muhar, U., Luckner, D., Bodamer, O. A., Mayr, J. A., Muss, W. H., Budka, H., Bernheimer, H.
Format: Article
Language:English
Subjects:
Adolescent
Amino Acid Sequence
Base Sequence
Biochemistry
Codon, Nonsense
DNA Mutational Analysis
Frameshift Mutation
Glycogen Storage Disease Type IIb - genetics
Glycogen Storage Disease Type IIb - metabolism
Glycogen Storage Disease Type IIb - pathology
Glycogen Storage Disease Type IIb - surgery
Heart Transplantation
Human Genetics
Humans
Internal Medicine
Leukocytes - metabolism
Lysosomal Membrane Proteins - deficiency
Lysosomal Membrane Proteins - genetics
Lysosomal-Associated Membrane Protein 2
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Molecular Sequence Data
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Myocardium - metabolism
Myocardium - pathology
Pediatrics
Sequence Deletion
Short Report
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Summary:Summary 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.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-009-1097-9