A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.

ABSTRACT:

Background

Danon disease (DD) is an X-linked dominant multisystem disorder that is associated with cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. It results from mutations in the lysosome-associated membrane protein 2 (LAMP2) gene.

Methods

Herein, a proband with a mild DD case presenting with a familial hypertrophic cardiomyopathy (HCM) phenotype and additional family members were evaluated. Exome sequencing and Sanger sequencing were performed to explore the genetic basis of DD in the proband. Segregation, in silico, and functional analyses were carried out to explore potential pathogenicity in the candidate mutation.

Results

Exome sequencing and Sanger sequencing identified one novel missense mutation (p.G93R) in the LAMP2 gene in

SUBMITTER: Xu J 

PROVIDER: S-EPMC6785429 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature