Supplementary Material for: MYH9-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations

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.