De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD

Abstract

<i>De novo</i> mutation of type 2 VWD gene was identified in 4 out of 15 families (26.7 %) examined. Since only one child was affected in each family, germline mosaicism was not likely. A somatic mosaicism of type 2A VWD gene was documented in a big family by a newly in-house developed technique ARMS-qPCR.