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Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy

Nobuhiro Dougu1, Shuji Joho, Lishen Shan

  • 1Department of Neurology, Toyama University Hospital, Toyama University Hospital, Toyama, Japan.

Circulation Journal : Official Journal of the Japanese Circulation Society
|December 6, 2008
PubMed

Insights

Danon disease, a genetic disorder affecting the heart and muscles, is caused by LAMP2 gene mutations. This study identifies a novel mutation in a family, highlighting the need for further functional analysis.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Danon disease is an X-linked dominant disorder impacting multiple organ systems.
  • It is characterized by hypertrophic cardiomyopathy and skeletal myopathy.
  • Mutations in the lysosome-associated membrane protein-2 (LAMP2) gene are the underlying cause, with over 20 identified to date.

Observation:

  • A family with three affected members (18-year-old male proband, 15 and 20-year-old sisters) was studied.
  • The proband exhibited concentric hypertrophy from age 5.
  • The mother had dilated cardiomyopathy and died from heart failure.

Findings:

  • DNA analysis revealed a novel hemizygous frameshift mutation (c.573delA) in exon 5 of the LAMP2 gene in the male proband.
  • The two affected sisters were heterozygous for the same LAMP2 mutation.
  • This represents a new genetic variant contributing to Danon disease.

Implications:

  • Identification of a novel LAMP2 mutation provides further insight into the genetic landscape of Danon disease.
  • Functional studies are essential to understand the pathogenicity of this specific mutation.
  • This research underscores the importance of genetic diagnostics in multisystem disorders like Danon disease.

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