De novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report

James Jiqi Wang; Bo Yu; Xiuli Song; Hong Wang

doi:10.3389/fcvm.2022.899283

De novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report

Front Cardiovasc Med. 2022 Sep 16:9:899283. doi: 10.3389/fcvm.2022.899283. eCollection 2022.

Authors

James Jiqi Wang^{1

2}, Bo Yu^{1

2}, Xiuli Song^{1

2}, Hong Wang^{2

3}

Affiliations

¹ Division of Cardiology, Department of Internal Medicine, Tongji Medical College, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.
² Hubei Key Laboratory of Genetics and Molecular Mechanism of Cardiological Disorders, Tongji Medical College, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.
³ Genetic Diagnostics Center, Tongji Medical College, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.

Abstract

Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the LAMP2 gene. In this case report, we present a patient with a novel pathogenic mutation (c.764_765insGA) with cardiac-only symptoms. Her family members do not carry the same mutation she does, suggesting this is a de novo mutation. Further tests revealed vacuoles and glycogen disposition in the patient's heart tissue and a significant decrease in LAMP2 protein expression. Protein structure remodeling of LAMP2 predicted that the mutant protein has conformational change lacking an important transmembrane domain, subsequently causing protein destabilization.

Keywords: Danon disease; LAMP2; Sanger sequencing; genetic diagnosis; hypertrophy.

Publication types

Case Reports