Key result
DNA analysis of a family with Danon disease revealed a novel frameshift mutation (c.573delA) in exon 5 of the LAMP2 gene in the male proband and his two affected sisters.
Case Report (n=3)
Identifies a novel frameshift mutation (c.573delA) in the LAMP-2 gene associated with Danon disease and hypertrophic cardiomyopathy.
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May inform family screening for Danon disease; leaves open pathogenicity and clinical utility pending validation.
Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). To date, over 20 different mutations in LAMP2 have been identified. Three members of a family, a male proband (18 years old) and 2 sisters (15 and 20 years old) were studied. Their mother had been diagnosed with dilated cardiomyopathy at the age of 39 years, and died from advanced heart failure at the age of 43 years. The proband developed marked concentric hypertrophy at the age of 5 years and DNA analyses revealed a novel hemizygous frameshift mutation (c.573delA) in exon 5. The 2 affected sisters were also heterozygous for the same mutation. Functional analyses of this novel LAMP2 mutation are mandatory.
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Dougu et al. (2009) conducted a case report in Danon disease with hypertrophic cardiomyopathy (n=3). LAMP2 gene mutation (c.573delA) was evaluated on Identification of genetic mutation. DNA analysis of a family with Danon disease revealed a novel frameshift mutation (c.573delA) in exon 5 of the LAMP2 gene in the male proband and his two affected sisters.
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