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Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
J Genet Med 2018;15:87-91
Published online December 31, 2018;  https://doi.org/10.5734/JGM.2018.15.2.87
© 2018 Korean Society of Medical Genetics and Genomics.

Inkyu Gill, Ja Hye Kim, Jin-Hwa Moon, Yong Joo Kim, and Nam Su Kim*

Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea
Nam Su Kim, M.D. http://orcid.org/0000-0002-8236-6334
Department of Pediatrics, Hanyang University Seoul Hospital, Hanyang University College of Medicine, 222-1 Wangsimni-ro, Seongdong-gu, Seoul 04763, Korea.
Tel: +82-2-2290-8389, Fax: +82-2-2297-2380, E-mail: namsukim@hanyang.ac.kr
Received May 18, 2018; Revised July 28, 2018; Accepted July 31, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Lysosomal-associated membrane protein 2, Danon disease, Hypertrophic cardiomyopathy, Whole exome sequencing


December 2018, 15 (2)
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