Arterial tortuosity syndrome in two Italian paediatric patients.

ABSTRACT:

Background

Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized 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.

Methods

The exons and intronic flanking regions of SLC2A10 gene were amplified and direct sequencing was performed.

Results

In both patients, the involvem

SUBMITTER: Ritelli M 

PROVIDER: S-EPMC2759904 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature