Skip to main content
Top
Published in: Journal of Inherited Metabolic Disease 1/2009

01-12-2009 | SHORT REPORT

Danon disease: Case report and detection of new mutation

Authors: G. Regelsberger, R. Höftberger, W. F. Pickl, G. J. Zlabinger, U. Körmöczi, U. Salzer-Muhar, D. Luckner, O. A. Bodamer, J. A. Mayr, W. H. Muss, H. Budka, H. Bernheimer

Published in: Journal of Inherited Metabolic Disease | Special Issue 1/2009

Login to get access

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.
Literature
go back to reference Danon MJ, Oh SJ, DiMauro S, et al (1981) Lysosomal glycogen storage disease with normal acid maltase. Neurology 31: 51–57.PubMedCrossRef Danon MJ, Oh SJ, DiMauro S, et al (1981) Lysosomal glycogen storage disease with normal acid maltase. Neurology 31: 51–57.PubMedCrossRef
go back to reference Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini C (2006) Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol 168: 1309–1320. doi:10.2353/ajpath.2006.050646 PubMedCrossRef Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini C (2006) Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol 168: 1309–1320. doi:10.​2353/​ajpath.​2006.​050646 PubMedCrossRef
go back to reference Hart ZH, Servidei S, Peterson PL, Chang CH, DiMauro S (1987) Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Neurology 37: 1065–1068.PubMedCrossRef Hart ZH, Servidei S, Peterson PL, Chang CH, DiMauro S (1987) Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Neurology 37: 1065–1068.PubMedCrossRef
go back to reference Holmes K, Lantz LM, Fowlkes BJ, Schmid I, Giorgi JV (2001) Unit 5.3 Preparation of cells and reagents for flow cytometry. In: Coligan JE, Bierer B, Margulies DH, Shevach EM, Strober W, Coico R, eds. Current Protocols in Immunology. New York: John Wiley and Sons, 5.3.1–5.3.24. Holmes K, Lantz LM, Fowlkes BJ, Schmid I, Giorgi JV (2001) Unit 5.3 Preparation of cells and reagents for flow cytometry. In: Coligan JE, Bierer B, Margulies DH, Shevach EM, Strober W, Coico R, eds. Current Protocols in Immunology. New York: John Wiley and Sons, 5.3.1–5.3.24.
go back to reference Maunsbach AB (1998) Fixation of cells and tissues for transmission electron microscopy. In: Celis JE, ed. Cell Biology, A Laboratory Handbook. Vol. 3. San Diego: Academic Press, 249–259. Maunsbach AB (1998) Fixation of cells and tissues for transmission electron microscopy. In: Celis JE, ed. Cell Biology, A Laboratory Handbook. Vol. 3. San Diego: Academic Press, 249–259.
go back to reference Riedl E, Stockl J, Majdic O, Scheinecker C, Knapp W, Strobl H (2000) Ligation of E-cadherin on in vitro-generated immature Langerhans-type dendritic cells inhibits their maturation. Blood 96: 4276–4284.PubMed Riedl E, Stockl J, Majdic O, Scheinecker C, Knapp W, Strobl H (2000) Ligation of E-cadherin on in vitro-generated immature Langerhans-type dendritic cells inhibits their maturation. Blood 96: 4276–4284.PubMed
go back to reference Sugie K, Yamamoto A, Murayama K, et al (2002) Clinicopathological features of genetically confirmed Danon disease. Neurology 58: 1773–1778.PubMedCrossRef Sugie K, Yamamoto A, Murayama K, et al (2002) Clinicopathological features of genetically confirmed Danon disease. Neurology 58: 1773–1778.PubMedCrossRef
Metadata
Title
Danon disease: Case report and detection of new mutation
Authors
G. Regelsberger
R. Höftberger
W. F. Pickl
G. J. Zlabinger
U. Körmöczi
U. Salzer-Muhar
D. Luckner
O. A. Bodamer
J. A. Mayr
W. H. Muss
H. Budka
H. Bernheimer
Publication date
01-12-2009
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue Special Issue 1/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-009-1097-9

Other articles of this Special Issue 1/2009

Journal of Inherited Metabolic Disease 1/2009 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine