Arterial tortuosity syndrome in two Italian paediatric patients.

Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive
connective tissue disorder characterized by tortuosity and elongation of the large and mediumsized
arteries, propensity to aneurysms formation, vascular dissection, and pulmonary arteries
stenosis. ATS is caused by mutations in SLC2A10 gene, encoding for the facilitative glucose
transporter 10 (GLUT10). So far, 17 SLC2A10 mutations have been reported in 32 families, two of
which were Italian with a total of five patients. Here we present the clinical and molecular
characterization of two novel Italian paediatric ATS patients.