Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)

@article{Lobrinus2005MorphologicalCA,
  title={Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)},
  author={Johannes A. Lobrinus and Daniel F. Schorderet and Maurice Payot and Xavier Jeanrenaud and Armand Bottani and Andrea Superti-Furga and Juerg Schlaepfer and Menachem Fromer and P. Y. Jeannet},
  journal={Neuromuscular Disorders},
  year={2005},
  volume={15},
  pages={293-298}
}
A family with several cases of severe cardiomyopathy and moderate myopathy is described, affecting two brothers and their cousin as well as their mothers. One boy died of sudden cardiac arrest at 17 years of age. The two brothers were treated with an implantable defibrillator and their mother died suddenly at 40 years of age. Muscle biopsy in males showed vacuolar myopathy in two cases, and no abnormality on standard staining in the third case. Cardiac biopsies showed hypertrophic and… Expand
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
  • N. Dougu, S. Joho, +8 authors H. Inoue
  • Medicine
  • Circulation journal : official journal of the Japanese Circulation Society
  • 2009
Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associatedExpand
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
TLDR
The findings suggest that several features may contribute to the early and severe cardiac phenotype in female DD patients, while the type of mutation may account for the early disease onset and both the inhomogeneous distribution of LAMP2 loss and the presence of microvascular remodeling may be determinant in the rapid progression to heart failure. Expand
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Two families of Greek patients with subclinical to severe cardiomyopathy are presented, and a substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed. Expand
Danon disease with typical early‐onset cardiomyopathy in a male: Focus on a novel LAMP‐2 mutation
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DNA analysis ultimately identified a previously unreported hemizygous IVS6+3_+6delGAGT splice site deletion mutation in the LAMP‐2 gene located within the 5′splice site of intron 6, consistent with Danon disease. Expand
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This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy, which reveals a defect located at the second nucleotide in the intron 8 of the Lamp-2 gene that generated exon 8 skipping confirmed at RNA level in the proband. Expand
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It is demonstrated that Danon disease is a frequently fatal condition that is potentially treatable with heart transplantation and a novel mutation in exon 2 of the Lamp‐2 gene is described. Expand
[Danon disease: a case report and literature overview].
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This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation, which indicates a genetic basis for HCM. Expand
Multisystemic LAMP-2 defect in Danon disease.
TLDR
LAMP-2 protein deficiency was detectable in various tissues indicating that the biochemical diagnosis can be obtained on leukocytes and might be used for screening in male patients, and that the multiorgan protein deficiency would explain the multisystem clinical involvement. Expand
- 181-Multisystemic LAMP-2 defect in Danon disease
Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To investigate the effects ofExpand
A case report of delayed diagnosis of danon disease
TLDR
This case report describes a 19-year-old man who was diagnosed with Danon disease and survived for 3 years from symptom onset to death, including a novel missense mutation in his LAMP2 gene that had not been previously reported. Expand
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References

SHOWING 1-10 OF 19 REFERENCES
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.
TLDR
A novel LAMP2 mutation of the exon 8 splice acceptor site (IVS7-1G --> A) in an affected male and female, which predicts abnormal splicing is identified, which should be actively looked for in cardiomyopathy patients. Expand
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation
TLDR
This patient displays the typical clinical triad, with cardiomyopathy, mental retardation and myopathy, and a vacuolar myopathy without acid alpha-glucosidase deficiency, and represents the second case of successful heart transplantation in this lysosomal disease. Expand
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
TLDR
It is concluded that primary LAMP-2 deficiency is the cause of Danon disease and this is the first example of human cardiopathy–myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein. Expand
Clinicopathological features of genetically confirmed Danon disease
TLDR
Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles and heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy. Expand
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.
TLDR
Findings raise the possibility of reversal of evolving phenotype or prevention of phenotypes in human patients with HCM, as studies in transgenic animal models show that cardiac hypertrophy, interstitial fibrosis, and myocyte disarray are potentially reversible. Expand
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.
TLDR
The data provide evidence of a bioenergetic deficit in genotype-confirmed HCM, which is present to a similar degree in three disease-gene groups, and supports a proposed link between altered cardiac energetics and development of the disease phenotype. Expand
Hypertrophic cardiomyopathy: a systematic review.
TLDR
An appreciation that HCM, although an important cause of death and disability at all ages, does not invariably convey ominous prognosis and is compatible with normal longevity should dictate a large measure of reassurance for many patients. Expand
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.
  • R. Lodi, J. Cooper, +4 authors A. Schapira
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1999
TLDR
The results show that FRDA is a nuclear-encoded mitochondrial disorder affecting oxidative phosphorylation and give a rationale for treatments aimed to improve mitochondrial function in this condition. Expand
X‐linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers
TLDR
Results suggest that the deposition of membrane attack complex on the damaged cell surface membrane could be important in the pathogenesis of this muscle disorder, and that the membrane‐bounded vacuoles could be a consequence of sarcolemmal invagination. Expand
Lysosomal glycogen storage disease with normal acid maltase
TLDR
Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency; biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Expand
...
1
2
...