Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Adel ShalataMarina Bar-ShaiYarin HadidMuhammad MahroumHila MintzZaher Eldin ShalataEvgeny RadzishevskyGenizi JacobAvraham LorberTamar Ben-YosefLiat YanivPublished in: Genes (2023)
Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 ( LAMP2 ) gene. Numerous different mutations in the LAMP2 protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf-Parkinson-White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone-rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire LAMP2 gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management.
Keyphrases
- heart failure
- left ventricular
- end stage renal disease
- intellectual disability
- physical activity
- chronic kidney disease
- ejection fraction
- genome wide
- systematic review
- loop mediated isothermal amplification
- autism spectrum disorder
- peritoneal dialysis
- body mass index
- early onset
- cardiac resynchronization therapy
- gene expression
- genome wide identification
- acute myocardial infarction
- case report
- patient reported outcomes
- dna methylation
- sleep quality
- transcription factor
- left atrial
- small molecule
- transcatheter aortic valve replacement
- amino acid
- single cell