title: Danon disease due to a novel splice mutation in the LAMP2 gene.
abstract: Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. We describe a novel splice mutation in the LAMP2 gene in a French Canadian family. By identifying this novel mutation we were able to offer genetic screening and counseling to all family members. Presymptomatic diagnosis is important as cardiac surveillance can be life-saving.
authors.affiliation: Neuromuscular Research Group, Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, Quebec H3A 2B4, Canada.
authors.forename: Amelie
authors.initials: A
authors.lastname: Nadeau
authors.forename: Christian
authors.initials: C
authors.lastname: Therrien
authors.forename: George
authors.initials: G
authors.lastname: Karpati
authors.forename: Michael
authors.initials: M
authors.lastname: Sinnreich
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics* / Q000473:pathology; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2 / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*
chemical_list: D052119:Lysosomal-Associated Membrane Protein 2