Toward the ideal “Mutation Update” and “Locus Specific Database” for disease genes

✍ Scribed by Richard G.H. Cotton

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 77 KB
• Volume: 30
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.21102

✦ Synopsis

Locus Specific Databases (LSDBs) have been called "Knowledgebases" by Charles Scriver. Researchers dealing with a specific disease ideally should have to look no further than an LSDB for all the up-to-date data they need, so that accurate genetic healthcare can be delivered in a timely manner. This presumes that the LSDB is current and that a recent Mutation Update-type article is available for more detailed discussion. Not only should Mutation Updates contain all mutations identified to date of the gene(s) in question, but ideally, an LSDB should either exist or be organized and launched by the authors. (One of the key problems experienced by many LSDB curators is funding-members of the Human Variome Project [www.humanvariomeproject.org] are addressing this issue vigorously.) Additionally, a policy has been suggested by the editors of Nature Genetics and Human Mutation that authors of gene mutation reviews should contact all diagnostic and research labs in that field for variants. In return for submissions, the submitter would receive co-authorship.

More of our Mutation Update submissions are moving in this ideal direction, such as the one by Laing et al. (Hum Mutat 30:1267-1277, 2009) for skeletal muscle a-actin (ACTA1). In addition to reporting mutations and SNPs, the authors review histology, penetrance, and genotype-phenotype correlation. There are extensive biological, diagnostic and clinical relevance sections, along with discussion of potential therapies in the "Future Prospects" section. Inclusion of a conservation profile across species is also useful. Significantly, the authors create an LSDB and make a concerted effort to include all variants from all laboratories in the field.

-Richard G.H. Cotton, Genomic Disorders Research Centre