title: Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
abstract: Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). To date, over 20 different mutations in LAMP2 have been identified. Three members of a family, a male proband (18 years old) and 2 sisters (15 and 20 years old) were studied. Their mother had been diagnosed with dilated cardiomyopathy at the age of 39 years, and died from advanced heart failure at the age of 43 years. The proband developed marked concentric hypertrophy at the age of 5 years and DNA analyses revealed a novel hemizygous frameshift mutation (c.573delA) in exon 5. The 2 affected sisters were also heterozygous for the same mutation. Functional analyses of this novel LAMP2 mutation are mandatory.
authors.affiliation: Department of Neurology, Toyama University Hospital, Toyama University Hospital, Toyama, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Dougu
authors.forename: Shuji
authors.initials: S
authors.lastname: Joho
authors.forename: Lishen
authors.initials: L
authors.lastname: Shan
authors.forename: Takuya
authors.initials: T
authors.lastname: Shida
authors.forename: Akira
authors.initials: A
authors.lastname: Matsuki
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Uese
authors.forename: Keiichi
authors.initials: K
authors.lastname: Hirono
authors.forename: Fukiko
authors.initials: F
authors.lastname: Ichida
authors.forename: Kortaro
authors.initials: K
authors.lastname: Tanaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Inoue
mesh_terms: D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D004452:Echocardiography; D004562:Electrocardiography; D016368:Frameshift Mutation / Q000235:genetics*; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins