Cantu syndrome (MIM 239850) is a rare, autosomal dominant disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial features. Patients have thick scalp hair, which may extend onto the forehead, and an overall increase in body hair. Skeletal features include thickened calvarium, narrow thorax, broad ribs, Erlenmeyer flask shaped long bones, enlarged medullary canals, platyspondyly, ovoid vertebral bodies, and delayed bone age. Cardiomegaly is the most prevalent cardiac anomaly; however, hypertrophic cardiomyopathy and patent ductus arteriosus are also frequently reported. Macrocephaly and neonatal macrosomia are other common features. Cantu syndrome is caused by mutations in ABCC9, which encodes the regulatory subunits of an ATP-sensitive potassium channel. All currently reported mutations are missense changes localized within or near the transmembrane domains. These mutations appear to have an activating effect resulting in channel opening. Cantu syndrome can also be caused by mutations in the KCNJ8 gene (Cantu syndrome, KCNJ8 related). Patients with KCNJ8 mutations may have additional clinical findings such as dilated aortic root, dilated and tortuous intrahepatic arteries and veins and multiple venous defects in the brain.

The Cantu syndrome NGS panel consists of two genes: ABCC9 and KCNJ8.

Copy number variation (CNV) analysis of the Cantu syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.