scholarly journals Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

2020 ◽  
Author(s):  
Bohdan Kousal ◽  
Filip Majer ◽  
Hana Vlaskova ◽  
Lenka Dvorakova ◽  
Lenka Piherova ◽  
...  
Keyword(s):  
Pigmentary Retinopathy ◽  
Danon Disease

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot

2021 ◽  
Author(s):  
Tsubasa Shimozono ◽  
Kentaro Ueno ◽  
Naohiro Shiokawa ◽  
Seiko Ohno ◽  
Yoshifumi Kawano
Keyword(s):  
Early Diagnosis ◽  
Tetralogy Of Fallot ◽  
Danon Disease

A novel nonsense variant associated with Danon disease in a pediatric male: A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S23
Author(s):  
Daniela Castillo-Garcia ◽  
Magdalena Cerón-Rodriguez ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Jesús Aguirre-Hernández ◽  
Judith Almanza-Aranda ◽  
...  
Keyword(s):  
Case Report ◽  
Danon Disease

Rubella Pigmentary Retinopathy in Triplets

1974 ◽  
Vol 11 (4) ◽  
pp. 193-197
Author(s):  
James A Ehlers ◽  
Walter R Stafford ◽  
Harry R Brady
Keyword(s):  
Pigmentary Retinopathy

scholarly journals LAMP-2B regulates human cardiomyocyte function by mediating autophagosome–lysosome fusion

2018 ◽  
Vol 116 (2) ◽  
pp. 556-565 ◽  
Author(s):  
Congwu Chi ◽  
Andrea Leonard ◽  
Walter E. Knight ◽  
Kevin M. Beussman ◽  
Yuanbiao Zhao ◽  
...  
Keyword(s):  
Heart Failure ◽  
Membrane Protein ◽  
Pluripotent Stem Cells ◽  
Coiled Coil ◽  
Gene Correction ◽  
Danon Disease ◽  
Human Cardiomyocytes ◽  
Coiled Coil Domain ◽  
Induced Pluripotent ◽  
Isoform B

Mutations in lysosomal-associated membrane protein 2 (LAMP-2) gene are associated with Danon disease, which often leads to cardiomyopathy/heart failure through poorly defined mechanisms. Here, we identify the LAMP-2 isoform B (LAMP-2B) as required for autophagosome–lysosome fusion in human cardiomyocytes (CMs). Remarkably, LAMP-2B functions independently of syntaxin 17 (STX17), a protein that is essential for autophagosome–lysosome fusion in non-CMs. Instead, LAMP-2B interacts with autophagy related 14 (ATG14) and vesicle-associated membrane protein 8 (VAMP8) through its C-terminal coiled coil domain (CCD) to promote autophagic fusion. CMs derived from induced pluripotent stem cells (hiPSC-CMs) from Danon patients exhibit decreased colocalization between ATG14 and VAMP8, profound defects in autophagic fusion, as well as mitochondrial and contractile abnormalities. This phenotype was recapitulated by LAMP-2B knockout in non-Danon hiPSC-CMs. Finally, gene correction of LAMP-2 mutation rescues the Danon phenotype. These findings reveal a STX17-independent autophagic fusion mechanism in human CMs, providing an explanation for cardiomyopathy in Danon patients and a foundation for targeting defective LAMP-2B–mediated autophagy to treat this patient population.

Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

Neurology ◽  
2004 ◽  
Vol 63 (8) ◽  
pp. 1535-1535 ◽  
Author(s):  
P. Laforet ◽  
P. Charron ◽  
T. Maisonobe ◽  
N. B. Romero ◽  
E. Villard ◽  
...  
Keyword(s):  
Charcot Marie Tooth ◽  
Danon Disease

scholarly journals A Nationwide Survey on Danon Disease in Japan

2018 ◽  
Vol 19 (11) ◽  
pp. 3507 ◽  
Author(s):  
Kazuma Sugie ◽  
Hirofumi Komaki ◽  
Nobuyuki Eura ◽  
Tomo Shiota ◽  
Kenji Onoue ◽  
...  
Keyword(s):  
De Novo ◽  
Sudden Cardiac Arrest ◽  
Nationwide Survey ◽  
Clinicopathological Features ◽  
Significant Prognostic Factor ◽  
De Novo Mutations ◽  
Present Survey ◽  
Danon Disease ◽  
High Incidence ◽  
Male Patients

Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological features and management, we performed the first nationwide, questionnaire-based survey on Danon disease in Japan. A total of 39 patients (17 males, 22 females) from 20 families were identified in the analysis. All patients had cardiomyopathy. Of the 21 patients who died, 20 (95%) died of cardiac failure or sudden cardiac arrest. Most patients had hypertrophic cardiomyopathy. Wolf–Parkinson–White syndrome was present at a comparatively high incidence (54% in males, 22% in females). Only one female patient received a heart transplant, which is the most effective therapy. Histopathologically, all male patients showed autophagic vacuoles with sarcolemmal features in muscle. Half of the probands showed de novo mutations. Male patients showed completely absent LAMP-2 expression in muscle. In contrast, female patients showed decreased LAMP-2 expression, which is suggested to reflect LAMP-2 haploinsufficiency due to a heterozygous null mutation. In conclusion, Danon disease is an extremely rare muscular disorder in Japan. Cardiomyopathy is the most significant prognostic factor and the main cause of death. Our findings suggest that the present survey can extend our understanding of the clinical features of this rare disease.

scholarly journals Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R

Medicine ◽  
2016 ◽  
Vol 95 (29) ◽  
pp. e4237 ◽  
Author(s):  
Edit Porpaczy ◽  
Marius Mayerhoefer ◽  
Ulrike Salzer-Muhar ◽  
Ulrich Jaeger
Keyword(s):  
Danon Disease

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

2005 ◽  
Vol 15 (6) ◽  
pp. 409-411 ◽  
Author(s):  
Olimpia Musumeci ◽  
Carmelo Rodolico ◽  
Ichizo Nishino ◽  
Giuseppe Di Guardo ◽  
Alba Migliorato ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Danon Disease
Sign in / Sign up

Export Citation Format

Share Document