Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

  • Gill, Inkyu (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Kim, Ja Hye (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Moon, Jin-Hwa (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Kim, Yong Joo (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Kim, Nam Su (Department of Pediatrics, Hanyang University College of Medicine)
  • Received : 2018.05.18
  • Accepted : 2018.07.31
  • Published : 2018.12.31
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Abstract

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

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References

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