Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease

Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T&am...

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Autores principales:	Zongzhe Li, Fei Ma, Rui Li, Zhichao Xiao, Hesong Zeng, Dao Wen Wang
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Danon disease LAMP2 splicing mutation targeted sequencing genetic diagnosis Diseases of the circulatory (Cardiovascular) system RC666-701
Acceso en línea:	https://doaj.org/article/96e1a0a8c2584826bfb9da57b4b79c13
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spelling	oai:doaj.org-article:96e1a0a8c2584826bfb9da57b4b79c132021-12-01T00:43:29ZCase Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease2297-055X10.3389/fcvm.2021.763240https://doaj.org/article/96e1a0a8c2584826bfb9da57b4b79c132021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcvm.2021.763240/fullhttps://doaj.org/toc/2297-055XDanon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T>C) with cardiac-only symptoms (frequent ventricular tachycardia, intraventricular block, and hypertrophic cardiomyopathy). Minigene assays were used to evaluate the consequence of the splice-site mutation in the LAMP2 gene. The results showed that the c.741+2T>C mutation led to extra 6-bp preservation of intron 5 at the junction between exons 5 and 6 during transcriptional processing of the mRNA, which creates a stop codon and truncated the LAMP2 protein to 248-amino-acid residues. The mutant LAMP2 protein was predicted to have a conformational change, lacks the important transmembrane domain, and subsequent protein destabilization.Zongzhe LiZongzhe LiFei MaRui LiZhichao XiaoHesong ZengDao Wen WangDao Wen WangFrontiers Media S.A.articleDanon diseaseLAMP2splicing mutationtargeted sequencinggenetic diagnosisDiseases of the circulatory (Cardiovascular) systemRC666-701ENFrontiers in Cardiovascular Medicine, Vol 8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Danon disease LAMP2 splicing mutation targeted sequencing genetic diagnosis Diseases of the circulatory (Cardiovascular) system RC666-701
spellingShingle	Danon disease LAMP2 splicing mutation targeted sequencing genetic diagnosis Diseases of the circulatory (Cardiovascular) system RC666-701 Zongzhe Li Zongzhe Li Fei Ma Rui Li Zhichao Xiao Hesong Zeng Dao Wen Wang Dao Wen Wang Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
description	Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T>C) with cardiac-only symptoms (frequent ventricular tachycardia, intraventricular block, and hypertrophic cardiomyopathy). Minigene assays were used to evaluate the consequence of the splice-site mutation in the LAMP2 gene. The results showed that the c.741+2T>C mutation led to extra 6-bp preservation of intron 5 at the junction between exons 5 and 6 during transcriptional processing of the mRNA, which creates a stop codon and truncated the LAMP2 protein to 248-amino-acid residues. The mutant LAMP2 protein was predicted to have a conformational change, lacks the important transmembrane domain, and subsequent protein destabilization.
format	article
author	Zongzhe Li Zongzhe Li Fei Ma Rui Li Zhichao Xiao Hesong Zeng Dao Wen Wang Dao Wen Wang
author_facet	Zongzhe Li Zongzhe Li Fei Ma Rui Li Zhichao Xiao Hesong Zeng Dao Wen Wang Dao Wen Wang
author_sort	Zongzhe Li
title	Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
title_short	Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
title_full	Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
title_fullStr	Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
title_full_unstemmed	Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
title_sort	case report: a novel lamp2 splice-altering mutation causes cardiac-only danon disease
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/96e1a0a8c2584826bfb9da57b4b79c13
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Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease

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