Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Journal of Genetic Medicine
;
: 87-91, 2018.
Article
in English
| WPRIM
| ID: wpr-719108
ABSTRACT
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cardiomyopathy, Hypertrophic
/
Mass Screening
/
Exons
/
Cause of Death
/
Frameshift Mutation
/
Rare Diseases
/
Glycogen Storage Disease Type IIb
/
Lysosomal-Associated Membrane Protein 2
/
Failure to Thrive
/
Exome
Type of study:
Diagnostic study
/
Screening study
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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