Supplementary Material for: MYH9-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations
datasetposted on 15.03.2014 by Zhang S., Zhou X., Liu S., Bai T., Zhang Y., Wang J., Wang S., Zhang X., Wang B.
Datasets usually provide raw data for analysis. This raw data often comes in spreadsheet form, but can be any collection of data, on which analysis can be performed.
We describe a large four-generational Chinese pedigree segregating MYH9-related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA substitution. Analyzing the patterns of previously reported mutations revealed a limited spectrum of pathogenic variants. The implications of this finding are discussed.