title: 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.affiliation: Département de Neurologie, Hôpital Civil, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France. echaniz-laguna@medecine.u-strasbg.fr
authors.forename: Andoni
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.forename: Michel
authors.initials: M
authors.lastname: Mohr
authors.forename: Eric
authors.initials: E
authors.lastname: Epailly
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Christophe
authors.initials: C
authors.lastname: Guiraud-Chaumeil
authors.forename: Christine
authors.initials: C
authors.lastname: Tranchant
mesh_terms: D000328:Adult; D001284:Atrophy; D015153:Blotting, Western; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003402:Creatine Kinase / Q000097:blood; D004247:DNA / Q000235:genetics; D017147:Defibrillators, Implantable; D004576:Electromyography; D017809:Fatal Outcome; D005260:Female; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D016027:Heart Transplantation; D006801:Humans; D007150:Immunohistochemistry; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000601:surgery; D009154:Mutation / Q000502:physiology*
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins; D004247:DNA; D003402:Creatine Kinase