A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.

ABSTRACT:

Background

Danon disease is an X-linked dominant hereditary condition caused by mutations in the gene encoding lysosomal-associated membrane protein 2 (LAMP2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function.

Methods

We describe identification of a mutation in LAMP2, c.741+1G>T, in a family with Danon disease by whole exome sequencing.

Results

Pathology examination of patient skeletal muscle biopsy showed myogenic damage and autophagic vacuoles with sarcolemmal features (AVSF). Numerous autophagic vacuoles accumulated in muscle cells were detected by electron microscopy, indicating abnormal autophagy function.

Conclusion

The mutation did not result in loss of mRNA exons; rather, a 6-

SUBMITTER: Zhou N 

PROVIDER: S-EPMC6418376 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature