A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease

Autor: Angeliki Gkouziouta, Polyxeni Gourzi, Loukas Kaklamanis, Dimitrios Degiannis, Malena P. Pantou, Christianna Zygouri, Stamatis Adamopoulos, Pantelis Constantoulakis, Dimitrios Tsiapras
Rok vydání: 2019
Předmět:
Zdroj: European Journal of Medical Genetics. 62:77-80
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2018.05.015
Popis: Danon disease is a rare X-linked cardiac and skeletal muscle disorder with multisystem clinical manifestations. Genetic defects at the lysosome-associated membrane 2 protein (LAMP2) are the cause of the disorder. Due to the rarity of the disease, there is limited progress in understanding the correlation between genotype and phenotype, and explaining the large variability of the clinical features of the disease. In this study, we report two patients, twin sisters, referred to our hospital for end stage heart failure due to dilated cardiomyopathy, requiring heart transplant evaluation. Genetic analysis, using targeted next generation sequencing, showed that the proband carried a LAMP2 missense variant, c.928G > A. The mutation was also detected in her twin sister by sanger sequencing. This variant has already been reported by other investigators and was correlated with the clinical triad of Danon disease i.e. hypertrophic cardiomyopathy, mental retardation and peripheral myopathy. The new phenotype of dilated cardiomyopathy associated with this mutation, confirms the phenotypic heterogeneity of the particular mutation, as well as of Danon disease.
Databáze: OpenAIRE
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