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.

Keywords:
Bioinformatics, Missense single nucleotide variants, MYH9-related disease, Pathogenic mutations, Thrombocytopenia
© 2014 S. Karger AG, Basel
2014
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