Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Christian Schaaf, Yaping Yang and colleagues report that germline mutations in ABL1, which is best known as part of the fusion gene BCR-ABL1 on the Philadelphia chromosome, cause an autosomal dominant disorder characterized by heart disease, skeletal abnormalities and failure to thrive. They find that these mutations increase the kinase activity of ABL1, establishing another example of mutations in a proto-oncogene leading to developmental defects.