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. 2013 Feb;34(2):E2382-91.
doi: 10.1002/humu.22247. Epub 2012 Dec 26.

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource

Amanda B Payne  1 , Connie H Miller, Fiona M Kelly, J Michael Soucie, W Craig Hooper
Affiliations

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource

Amanda B Payne et al. Hum Mutat. 2013 Feb.

Abstract

Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards for coding DNA and predicted protein changes as well as traditional nomenclature based on the mature, processed protein. Listings also include the associated hemophilia severity classified by International Society of Thrombosis and Haemostasis (ISTH) criteria, associations of the mutations with inhibitors, and reference information. The mutation list currently contains 2,537 unique mutations known to cause HA. HA severity caused by the mutation is available for 2,022 mutations (80%) and information on inhibitors is available for 1,816 mutations (72%). The CDC Hemophilia A Mutation Project (CHAMP) Mutation List is available at http://www.cdc.gov/hemophiliamutations for download and search and will be updated quarterly based on periodic literature reviews and submitted reports.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Novel F8 mutations by year of publication.
Figure 2
Figure 2
Distribution of missense, frameshift, and nonsense mutations in F8.
Figure 3
Figure 3
Reported large deletions in F8.
Figure 4
Figure 4
Distribution of mutations associated with mild, moderate, and severe HA throughout F8. Classes of mutations include missense, nonsense, frameshift, promoter, in-frame, and synonymous mutations.
Figure 5
Figure 5
Distribution of mutations associated with inhibitors across F8.
See this image and copyright information in PMC

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