Danon disease: a case report and literature review

Diagnostic Pathology

Lian Wang¹  Xinlin Zhang¹  Hongyan Zheng¹  Yihai Liu¹  Lina Kang¹  Kun Wang¹  Zhu Li¹  Biao Xu¹  Jiamin Xu¹  Fengnan Niu² 

[1] Department of Cardiology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, 210008, Nanjing, P.R. China;Department of Pathology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, 210008, Nanjing, P.R. China;

关键词: Danon disease;    Cardiomyopathy;    LAMP;    Mutation;    NGS;   

DOI  :  10.1186/s13000-021-01100-8

来源: Springer

【 摘 要 】

BackgroundDanon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, which leads to the formation of autophagic vacuoles containing glycogen granule deposits in skeletal and cardiac muscle fibers. So far, more than 50 different mutations in LAMP2 have been identified.Case presentationHere, we report an 18-year-old male patient who was hospitalized for heart failure. Biopsy of the left lateral femoral muscle revealed scattered autophagic vacuoles in the muscle fibers with increased glycogen. Next generation sequencing (NGS) was used to detect gene mutations of the proband sample and a novel frameshift mutation (c.1052delG) has been identified in exon 8 of LAMP2, which leads to truncation of the protein.ConclusionWe found a novel frameshift mutation, a hemizygous mutation (c.1052delG) in exon 8 of LAMP2, identified as presenting the hypertrophic cardiomyopathy (HCM) phenotype. Genetic analysis is the gold standard for the diagnosis of DD and is essential to determine appropriate treatment strategies and to confirm the genetic risk of family members.

【 授权许可】

CC BY