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

• Gill I
• Kim JH
• Moon JH
• Kim YJ
• Kim NS

• KMID: 2435947
• DOI: http://doi.org/10.5734/JGM.2018.15.2.87

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.

Keyword

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

MeSH Terms

Cardiomyopathies
Cardiomyopathy, Hypertrophic*
Cause of Death
Child, Preschool
Exome*
Exons
Failure to Thrive
Frameshift Mutation
Glycogen Storage Disease Type IIb
Humans
Intellectual Disability
Lysosomal-Associated Membrane Protein 2
Male
Mass Screening
Membrane Proteins
Methods
Muscular Diseases
Rare Diseases
Lysosomal-Associated Membrane Protein 2
Membrane Proteins