%0 Generic %A S., Zhang %A X., Zhou %A S., Liu %A T., Bai %A Y., Zhang %A J., Wang %A S., Wang %A X., Zhang %A B., Wang %D 2014 %T Supplementary Material for: MYH9-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_b_i_MYH9_i_b_-Related_Disease_Description_of_a_Large_Chinese_Pedigree_and_a_Survey_of_Reported_Mutations/5125870 %R 10.6084/m9.figshare.5125870.v1 %2 https://ndownloader.figshare.com/files/8713021 %K Bioinformatics %K Missense single nucleotide variants %K MYH9-related disease %K Pathogenic mutations %K Thrombocytopenia %X 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. %I Karger Publishers