Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

• Published in: Acta myologica 2010-07, Vol.29 (1), p.1-20
• Main Authors: Piluso, G, Aurino, S, Cacciottolo, M, Del Vecchio Blanco, F, Lancioni, A, Rotundo, I L, Torella, A, Nigro, V
• Format: Article
• Language: English
• Subjects: Cardiomyopathies - genetics; DNA Mutational Analysis; Genetic Variation; Genome, Human; Humans; Invited Review; Muscular Diseases - genetics; Neuromuscular Diseases - genetics; Polymorphism, Single Nucleotide; Polyneuropathies - genetics; Sequence Analysis, DNA
• ISSN: 1128-2460

A second genetic revolution is approaching thanks to next-generation DNA sequencing technologies. In the next few years, the 1,000$-genome sequencing promises to reveal every individual variation of DNA. There is, however, a major problem: the identification of thousands of nucleotide changes per individual with uncertain pathological meaning. This is also an ethical issue. In the middle, there is today the possibility to address the sequencing analysis of genetically heterogeneous disorders to selected groups of genes with defined mutation types. This will be cost-effective and safer. We assembled an easy-to manage overview of most Mendelian genes involved in myopathies, cardiomyopathies, and neuromyopathies. This was entirely put together using a number of open access web resources that are listed below. During this effort we realized that there are unexpected countless sources of data, but the confusion is huge. In some cases, we got lost in the validation of disease genes and in the difficulty to discriminate between polymorphisms and disease-causing alleles. In the table are the annotated genes, their associated disorders, genomic, mRNA and coding sizes. We also counted the number of pathological alleles so far reported and the percentage of single nucleotide mutations.