Genetic and prenatal diagnosis of a pedigree affected with type 3 von Willebrand disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To provide genetic and prenatal analysis for a pedigree affected with type 3 von Willebrand disease.</p><p><b>METHODS</b>Next generation sequencing and Sanger sequencing of the VWF gene were carried out for the pedigree. Suscepted pathogenic mutation was verified among other members of the pedigree and 100 healthy controls. Prenatal diagnosis was performed on amniotic cells derived from the fetus.</p><p><b>RESULTS</b>A homozygous mutation c.7287+1G>A of the VWF gene was detected in the patient, which was predicted by bioinformatic analysis as a pathological splice site mutation. The parents and sister of the patient have all carried the same mutation. The mutation was not detected among the 100 healthy controls. Prenatal diagnosis confirmed that the fetus did not inherit the same mutation.</p><p><b>CONCLUSION</b>A novel mutation of the VWF gene was discovered, which correlated with the phenotype of the patient. Based on the discovery, prenatal diagnosis was provided for a fetus during subsequent pregnancy.</p>