J Genet Med.  2018 Dec;15(2):87-91. 10.5734/JGM.2018.15.2.87.

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

  • 1Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea. namsukim@hanyang.ac.kr


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.


Lysosomal-associated membrane protein 2; Danon disease; Hypertrophic cardiomyopathy; Whole exome sequencing
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