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KMID : 1189120180150020087
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대한의학유전학회지
2018 Volume.15 No. 2 p.87 ~ p.91
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Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
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Gill In-Kyu
Kim Ja-Hye
Moon Jin-Hwa
Kim Yong-Joo
Kim Nam-Su
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Abstract
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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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KEYWORD
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Lysosomal-associated membrane protein 2, Danon disease, Hypertrophic cardiomyopathy, Whole exome sequencing
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