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

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

추천

검색

자료유형: 학술저널

저자정보: Gill, Inkyu (Department of Pediatrics, Hanyang University College of Medicine) Kim, Ja Hye (Department of Pediatrics, Hanyang University College of Medicine) Moon, Jin-Hwa (Department of Pediatrics, Hanyang University College of Medicine) Kim, Yong Joo (Department of Pediatrics, Hanyang University College of Medicine) Kim, Nam Su (Department of Pediatrics, Hanyang University College of Medicine)

저널정보: 대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제15권 제2호

발행연도: 2018.1

수록면: 87 - 91 (5page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

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

참고문헌 (16)

참고문헌 신청

Danon MJ / 1981 / Lysosomal glycogen storage disease with normal acid maltase / Neurology 31:51~57

Nishino I / 2000 / Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) / Nature 406:906~910

Sugie K / 2002 / Clinicopathological features of genetically confirmed Danon disease / Neurology 58:1773~1778

Boucek D / 2011 / Natural history of Danon disease / Genet Med 13:563~568

Szabadosova V / 2018 / Analysis of selected genes associated with cardiomyopathy by next-generation sequencing / J Clin Lab Anal

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!