Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing.
- Author:
Inkyu GILL
1
;
Ja Hye KIM
;
Jin Hwa MOON
;
Yong Joo KIM
;
Nam Su KIM
Author Information
- Publication Type:Case Report
- Keywords: Lysosomal-associated membrane protein 2; Danon disease; Hypertrophic cardiomyopathy; Whole exome sequencing
- MeSH: 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
- From:Journal of Genetic Medicine 2018;15(2):87-91
- CountryRepublic of Korea
- Language:English
- 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.
