AUTHOR=Wang James Jiqi , Yu Bo , Song Xiuli , Wang Hong 

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

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 9 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2022.899283

DOI=10.3389/fcvm.2022.899283

ISSN=2297-055X

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