Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.

Abstract

Lysosome-associated membrane protein-2 deficiency (LAMP-2 deficiency), or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp-2 gene have been reported. We describe a family from Sardinia with eight affected patients (4 females and 4 males) and a novel mutation in exon 2 of the Lamp-2 gene (c.102_103delAG). Females developed isolated cardiomyopathy in adulthood, whereas males presented with cardiomyopathy, myopathy, and mental retardation before the age of 20 years. Cardiomyopathy was lethal in three females in their 40s and in three males before the age 20 years. One patient was successfully treated by heart transplantation with more than 5-year follow-up. This study demonstrates that Danon disease is a frequently fatal condition that is potentially treatable with heart transplantation.

• Authors: Andoni Echaniz-Laguna, Michel Mohr, Eric Epailly, Ichizo Nishino, Philippe Charron, Pascale Richard, Christophe Guiraud-Chaumeil, Christine Tranchant
• Journal: Muscle & nerve (Muscle Nerve) Vol. 33 Issue 3 Pg. 393-7 (Mar 2006) ISSN: 0148-639X [Print] United States
• PMID: 16372318 (Publication Type: Case Reports, Journal Article)
• Copyright: Muscle Nerve, 2006.

Chemical References

• LAMP2 protein, human
• Lysosomal-Associated Membrane Protein 2
• Lysosome-Associated Membrane Glycoproteins
• DNA
• Creatine Kinase

Topics

• Adult
• Atrophy
• Blotting, Western
• Brain Diseases (genetics, pathology)
• Cardiomyopathy, Dilated (genetics, pathology, surgery)
• Creatine Kinase (blood)
• DNA (genetics)
• Defibrillators, Implantable
• Electromyography
• Fatal Outcome
• Female
• Glycogen Storage Disease Type IIb (genetics, pathology, surgery)
• Heart Transplantation
• Humans
• Immunohistochemistry
• Lysosomal-Associated Membrane Protein 2
• Lysosome-Associated Membrane Glycoproteins (genetics)
• Magnetic Resonance Imaging
• Male
• Muscle, Skeletal (pathology, surgery)
• Mutation (physiology)