KNG1 frameshift mutation causes high-molecular-weight kininogen deficiency

KNG1 frameshift mutation causes high-molecular-weight kininogen deficiency

In a striking illustration of how a single genetic deletion can disrupt the body’s clotting cascade without ever putting a patient in danger, researchers at The First Affiliated Hospital of Wenzhou Medical University in China have reported a rare case of hereditary high-molecular-weight kininogen deficiency caused by a previously unknown frameshift mutation in the KNG1 gene. The case, published as an open-access report in Annals of Hematology, d…