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Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

Juan-Mateu, J ; Paradas, C ; Olivé, M ; Verdura, E ; Rivas, E ; González-Quereda, L ; Rodríguez, MJ ; Baiget, M ; Gallano, P

Clinical genetics, 2012-12, Vol.82 (6), p.574-578 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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Título:
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
Autor: Juan-Mateu, J ; Paradas, C ; Olivé, M ; Verdura, E ; Rivas, E ; González-Quereda, L ; Rodríguez, MJ ; Baiget, M ; Gallano, P
Assuntos: Adult ; Biological and medical sciences ; Biopsy ; Blood ; Blotting, Western ; Cardiology. Vascular system ; Cardiomyopathy ; Cardiomyopathy, Dilated - genetics ; Cardiovascular disease ; Codon, Nonsense - genetics ; Creatine kinase ; Creatine Kinase - blood ; Dilated cardiomyopathy ; DNA Mutational Analysis ; DNA Primers - genetics ; dystrophin ; Dystrophin - genetics ; Fundamental and applied biological sciences. Psychology ; genetic normalization ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Heart ; Humans ; Immunohistochemistry ; Male ; Medical genetics ; Medical sciences ; Microsatellite Repeats - genetics ; Molecular and cellular biology ; Mosaicism ; Mosaics ; Muscle, Skeletal ; Muscular dystrophy ; Muscular system ; Mutation ; Myocarditis. Cardiomyopathies ; Nonsense mutation ; Olea ; Selection, Genetic ; Skeletal muscle ; somatic mosaicism ; Transcription ; X chromosome
É parte de: Clinical genetics, 2012-12, Vol.82 (6), p.574-578
Notas: istex:03B5A4E3842203F7CF773F2EB87FB005384F0B94
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Descrição: Juan‐Mateu J, Paradas C, Olivé M, Verdura E, Rivas E, González‐Quereda L, Rodríguez MJ, Baiget M, Gallano P. Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle. X‐linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue. We report a 26‐year‐old male who presented with severe dilated cardiomyopathy and high creatine kinase. The patient did not complain of skeletal muscle weakness. A muscle biopsy showed mild dystrophic changes and a low proportion of dystrophin‐negative fibres. A molecular study identified a nonsense DMD mutation (p.Arg2098X) in somatic mosaicism. The ratio of mutant versus normal allele in blood and skeletal muscle suggests selective pressure against mutant muscle cells, a process known as genetic normalization. We hypothesize that this process may have mitigated skeletal muscle symptoms in this patient. This is the second report of a DMD somatic mosaic with evidence of genetic normalization in muscle. Somatic DMD mutations should be considered in patients presenting with idiopathic dilated cardiomyopathy.
Editor: Oxford, UK: Blackwell Publishing Ltd
Idioma: Inglês

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Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

Juan-Mateu, J ; Paradas, C ; Olivé, M ; Verdura, E ; Rivas, E ; González-Quereda, L ; Rodríguez, MJ ; Baiget, M ; Gallano, P

Oxford, UK: Blackwell Publishing Ltd

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