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Acta Myol. 2010 July; 29(1): 1–20.
PMCID: PMC2954584

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

Summary

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.

Table thumbnail

Legenda

Abbreviations
Gene; symbol (OMIM)
indicates the official name of the gene, the symbol and the number as in the Online Mendelian Inheritance in Man database (3).
Chrom
indicates the chromosomal position assigned by the GRCh37/hg19 release at http://genome.ucsc.edu/cgi-bin/hgGateway.
Gene size
indicates the total size in base pairs of the most relevant transcript of the gene (for example, for the dystrophin gene we considered the skeletal muscle promotor and the 427kDa product).
RefSeq (mRNA)
is the official number of the most relevant gene product.
Exon no.
is the number of exons.
mRNA (ORF)
is the length of the mRNA and within brackets the length of the open reading frame also counting the first stop codon.
Disease symbol (OMIM)
indicates the official name of the associated disorders, the symbol and the number as in the Online Mendelian Inheritance in Man (3).
Inh
indicates the disease inheritance AR = autosomal recessive; AD = autosomal dominat, XR = X-linked recessive, ecc.
Variants (unique)
is the number of total variants (unique) reported in the Leiden database (L) Human Genome Mutation Database (H) or other specifica databases (O).
subst%
indicates the percentage of substitutions of mutated alleles found in patients: this may be important to address the strategy for mutation scanning.

Databases

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database (http://www.molgen.ua.ac.be/ADMutations/)
2. ARVD/C Genetic Variants Database (http://www.arvcdatabase.info/)
3. The Human Genome Mutation Database (www.hgmd.org)
4. Cardiogenomics: Sarcomere Gene Mutation Screening (http://cardiogenomics.med.harvard.edu/project-detail?project_id=230)
5. FHC Mutation Database (http://www.angis.org.au/Databases/Heart/heartbreak.html)
6. The Gene Connection for the Heart (http://www.fsm.it/cardmoc/)
7. Database on Transthyretin Mutations (http://www.ibmc.up.pt/mjsaraiva/ttrmut.html)
8. The Mutation Database of Inherited Peripheral Neuropathies (IPNMDB) (http://www.molgen.ua.ac.be/CMTMutations/)
9. Leiden Muscular Dystrophy pages (http://www.dmd.nl/)
10. MOONEY Laboratory MutDB (http://mutdb.org/)
11. Online Mendelian Inheritance in Man(OMIM) (http://www.ncbi.nlm.nih.gov/omim/)
12. ALSOD - The Amyotrophic Lateral Sclerosis Online genetic Database (http://alsod.iop.kcl.ac.uk/Als/Index.aspx) [PubMed]
13. The Androgen Receptor Gene Mutations Database WWW Server (http://androgendb.mcgill.ca/)
14. Mutation Database of the Protein Kinase C (http://www.retina-international.org/sci-news/prkcgmut.htm)
15. The DMD mutations database UMD-DMD France (http://www.umd.be/DMD/W_DMD/index.html)
16. Zhejiang University Center for Genetic and Genomic Medicine (http://www.china-hvp.org/LOVD/?select_db=CAV3)
17. The Long QT syndrome Database (http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm)

Articles from Acta Myologica are provided here courtesy of Pacini Editore