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

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单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Div Cardiol, Dept Internal Med, Wuhan, Peoples R China [2]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Genet Diag Ctr, Wuhan, Peoples R China [3]Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan, Peoples R China
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关键词: Danon disease LAMP2 splicing mutation targeted sequencing genetic diagnosis

摘要:
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.

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出版当年[2020]版:
大类 | 2 区 医学
小类 | 3 区 心脏和心血管系统
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 心脏和心血管系统
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出版当年[2019]版:
Q2 CARDIAC & CARDIOVASCULAR SYSTEMS
最新[2023]版:
Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

影响因子: 最新[2023版] 最新五年平均 出版当年[2019版] 出版当年五年平均 出版前一年[2018版] 出版后一年[2020版]

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第一作者单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Div Cardiol, Dept Internal Med, Wuhan, Peoples R China [2]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Genet Diag Ctr, Wuhan, Peoples R China [3]Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan, Peoples R China
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通讯机构: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Div Cardiol, Dept Internal Med, Wuhan, Peoples R China [2]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Genet Diag Ctr, Wuhan, Peoples R China [3]Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan, Peoples R China
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