Arterial tortuosity syndrome in two Italian paediatric patients.
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 involvement of major- and medium-sized arteries was characteristic; the nonvascular connective tissue manifestations were mild and not pathognomic of the disorder. Both patients, born from non-consanguineous parents, were heterozygous for two different SLC2A10 mutations, three of which were recurrent and one was novel (p.Arg231Trp). This mutation is localized at the endofacial loop between the transmembrane domains 6 and 7 of GLUT10.


CONCLUSIONS
Two novel ATS patients were characterized at clinical and molecular level. Overall, four ATS unrelated families are known in Italy so far. Though ATS clinical delineation improved in the last years, further works in the comprehension of disease presentation and complications onset, particularly in paediatric age, and on ATS molecular basis are needed to add new insights for diagnosis and prevention strategies for related complications.
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy. ritelli@med.unibs.it
Marco
M
Ritelli
Bruno
B
Drera
Mariano
M
Vicchio
Giovanni
G
Puppini
Paolo
P
Biban
Mara
M
Pilati
Maria Antonia
MA
Prioli
Sergio
S
Barlati
Marina
M
Colombi
D001157:Arterial Occlusive Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D009154:Mutation; D011859:Radiography; D054079:Vascular Malformations / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*
D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human