Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy

DOI Web Site 被引用文献2件 参考文献33件
  • Dougu Nobuhiro
    Department of Neurology, Toyama University Hospital
  • Joho Shuji
    Second Department of Internal Medicine, Toyama University Hospital
  • Shan Lishen
    Department of Pediatrics, Toyama University Hospital
  • Shida Takuya
    Second Department of Internal Medicine, Toyama University Hospital
  • Matsuki Akira
    Second Department of Internal Medicine, Toyama University Hospital
  • Uese Keiichiro
    Department of Pediatrics, Toyama University Hospital
  • Hirono Keiichi
    Department of Pediatrics, Toyama University Hospital
  • Ichida Fukiko
    Department of Pediatrics, Toyama University Hospital
  • Tanaka Kortaro
    Department of Neurology, Toyama University Hospital
  • Nishino Ichizo
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry
  • Inoue Hiroshi
    Second Department of Internal Medicine, Toyama University Hospital

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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. (Circ J 2009; 73: 376 - 380)<br>

収録刊行物

  • Circulation Journal

    Circulation Journal 73 (2), 376-380, 2009

    一般社団法人 日本循環器学会

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